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• Serum triglyceride level is an important predictor of early prognosis in patients with acute ischemic stroke.

  Authors: Kang-Ho Choi, Man-Seok Park, Joon-Tae Kim, Jane Chang, Tai-Seung Nam, Seong-Min Choi, Seung-Han Lee, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho

  Journal of the neurological sciences.

  BACKGROUND: Some recent studies have shown that poor outcomes after acute ischemic stroke (AIS) were closely related to lower serum triglyceride (TG) levels, not hypertriglyceridemia. However,BACKGROUND: Some recent studies have shown that poor outcomes after acute ischemic stroke (AIS) were closely related to lower serum triglyceride (TG) levels, not hypertriglyceridemia. However, hypertriglyceridemia has been shown to be an independent predictor for poor outcome in patients with coronary artery disease. This study attempted to evaluate the association between serum TG levels and early prognosis of AIS. METHODS: We enrolled 736 consecutive patients with AIS. Based on the TG level, patients were divided into 5 groups based on the guidelines of the National Cholesterol Education Program (NCEP). We defined early neurological deterioration (END) as a 4-point or greater deterioration of the NIH stroke scale (NIHSS) score and early clinical improvement (ECI) as a 4-point reduction of NIHSS within a week after symptom onset. We compared patients with END, ECI, and neither END nor ECI. RESULTS: The risk of END was significantly higher in the hyperTG and hypoTG groups compared with the normal group. The percentages of ECI were significantly lower in the hypoTG, borderline, and hyperTG groups compared with the normal group. For END, the multivariable adjusted odds ratios were significantly higher in the hypoTG, borderline, and hyperTG groups compared with the low normal group (50 to 100mg/dl). CONCLUSIONS: TG had a nonlinear, J-shaped association with poor outcome and a reverse J-shaped association with good outcome in AIS. This study suggests that both hyperTG and hypoTG can be risk factors for poor early outcome in AIS.

• The nervous system's potential role in multiple sclerosis associated bone loss.

  Authors: Sowmya Josyula, Bijal K Mehta, Yuval Karmon, Barbara Teter, Sonia Batista, Joseph Ostroff, Bianca Weinstock-Guttman

  Journal of the neurological sciences.

  Osteoporosis is a degenerative bone disease that causes significant morbidity and mortality in multiple sclerosis (MS) patients; the pathogenesis of this disease being poorly understood in theOsteoporosis is a degenerative bone disease that causes significant morbidity and mortality in multiple sclerosis (MS) patients; the pathogenesis of this disease being poorly understood in the context of MS. Osteoporosis is seen more frequently in MS patients than in healthy controls matched for age and sex. Extensively studied factors, including impaired ambulation and the use of steroids, do not appear to completely account for the phenomenon. This review summarizes common risk factors, physiologic and genetic, that may contribute to the etiology and progression of osteoporosis in MS patients as well as providing insight into nervous system control of bone metabolism and homeostasis.

• Vascular dementia.

  Authors: Amos D Korczyn, Veronika Vakhapova, Lea T Grinberg

  Journal of the neurological sciences.

  The epidemic growth of dementia causes great concern for the society. It is customary to consider Alzheimer's disease (AD) as the most common cause of dementia, followed by vascular dementia (VaD).The epidemic growth of dementia causes great concern for the society. It is customary to consider Alzheimer's disease (AD) as the most common cause of dementia, followed by vascular dementia (VaD). This dichotomous view of a neurodegenerative disease as opposed to brain damage caused by extrinsic factors led to separate lines of research in these two entities. Indeed, accumulated data suggest that the two disorders have additive effects and probably interact; however it is still unknown to what degree. Furthermore, epidemiological studies have shown "vascular" risk factors to be associated with AD. Therefore, a clear distinction between AD and VaD cannot be made in most cases, and is furthermore unhelpful. In the absence of efficacious treatment for the neurodegenerative process, special attention must be given to the vascular component, even in patients with presumed mixed pathology. Symptomatic treatment of VaD and AD is similar, although the former is less effective. For prevention of dementia it is important to treat all factors aggressively, even in stroke survivors who do not show evidence of cognitive decline. In this review, we will give a clinical and pathological picture of the processes leading to VaD and discuss its interaction with AD.

• Investigation of the role of the GABRG2 gene variant in migraine.

  Authors: Timothy Chen, Melanie Murrell, Javed Fowdar, Bishakha Roy, Rebecca Grealy, Lyn R Griffiths

  Journal of the neurological sciences.

  Migraine is the most common neurological disorder worldwide affecting about 12% of the worldwide population. This disorder has been classed into two main types of migraine-with and without aura.Migraine is the most common neurological disorder worldwide affecting about 12% of the worldwide population. This disorder has been classed into two main types of migraine-with and without aura. While a number of factors can influence the onset of migraine, a major factor is that of genetics. The GABAA gene encodes for the GABAA receptor. Along with other receptors, the GABAA receptor is involved in the mediation of neuronal activities. In this study, a GABRG2 gene (GABAA receptor gamma-2-subunit) SNP (rs211037) was genotyped on a migraine case-control population of 546 (273 affected and an equal number of healthy) individuals. Using specifically designed primers, a high resolution melt (HRM) assay was carried out in the genotyping process. After genotyping, results were compared in the case and control populations. Analysis of results showed no significant differences in the allele frequencies between case and control populations. Similarly no differences were detected for subtypes or for a specific gender of migraine (p>0.05). Although this gene has been previously found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, we decided to investigate this marker for involvement in migraine. The results did not support a role for the tested GABRG2 variant in migraine.

• Amyloid deposition after cerebral hypoperfusion: Evidenced on [(18)F]AV-45 positron emission tomography.

  Authors: Kuo-Lun Huang, Kun-Ju Lin, Meng-Yang Ho, Yeu-Jhy Chang, Chien-Hung Chang, Shiaw-Pyng Wey, Chia-Ju Hsieh, Tzu-Chen Yen, Ing-Tsung Hsiao, Tsong-Hai Lee

  Journal of the neurological sciences.

  Animal studies have shown that cerebral hypoperfusion may be associated with amyloid plaque accumulation. Amyloid plaque is known to be associated with dementia and [(18)F]AV-45 is a positronAnimal studies have shown that cerebral hypoperfusion may be associated with amyloid plaque accumulation. Amyloid plaque is known to be associated with dementia and [(18)F]AV-45 is a positron emission tomography (PET) ligand that binds to extracelluar plaques. We hypothesized that demented patients with cerebral hypoperfusion may have increased [(18)F]AV-45 uptake. Five demented patients with cerebral hypoperfusion due to unilateral carotid artery stenosis (CAS) were examined with [(18)F]AV-45 PET, and the results were compared with six elderly controls. The standard uptake value ratio (SUVR) of each region of interest (ROI) was created using whole cerebellum as the reference region. All subjects underwent magnetic resonance imaging (MRI) for obtaining structural information. Patients with dementia and unilateral CAS had a higher global [(18)F]AV-45 SUVR (1.34±0.06) as compared with controls (1.10±0.04, p=0.0043), especially over the frontal, temporal, precuneus, anterior cingulate and occipital regions. The statistical distribution maps revealed a significantly increased [(18)F]AV-45 SUVR in the medial frontal, caudate, thalamus, posterior cingulate, occipital and middle and superior temporal regions ipsilateral to the side of CAS (p<0.01). The present study found that cerebral [(18)F]AV-45 binding is increased in demented patients with CAS, and its distribution is lateralized to the CAS side, suggesting that amyloid-related dementia may occur under cerebral hypoperfusion.

• Features of varicella zoster virus myelitis and dependence on immune status.

  Authors: Chih-Hsien Hung, Kuo-Hsuan Chang, Hung-Chou Kuo, Chin-Chang Huang, Ming-Feng Liao, Yu-Tai Tsai, Long-Sun Ro

  Journal of the neurological sciences.

  BACKGROUND: Myelitis is a rare complication of varicella zoster virus (VZV) infection and is more prevalent in immunocompromised individuals. Clinical features, outcomes, and presentations vary. TheBACKGROUND: Myelitis is a rare complication of varicella zoster virus (VZV) infection and is more prevalent in immunocompromised individuals. Clinical features, outcomes, and presentations vary. The aim of the current study was to compare the clinical presentations of our patients with those reported in the literature, and to evaluate the differences in clinical features between immunocompromised and immunocompetent patients. METHODS: A review of the literature on VZV myelitis was carried out by searching PUBMED from 1980 to 2012. Clinical features of our cases and those in the literature were compared. RESULTS: There were 5 cases at our hospital and 26 were reported in the literature. Seventeen patients were immunocompromised (54.8%), and most had acquired immune deficiency syndrome (AIDS). Typical presentations (skin lesions followed by myelopathy at the corresponding level) were observed in 14 patients (45.2%). The immunocompromised patients were prone to atypical presentations (p<0.05). Outcomes were good in immunocompetent patients and relatively poor in immunocompromised patients (p<0.05). Anti-herpetic agents had no statistically significant effect on outcomes in immunocompromised patients (p=0.280), but could reduce mortality rate in AIDS patients (p<0.05). CONCLUSION: Immunocompromised individuals are susceptible to this disease, and prone to atypical presentations and poorer outcomes. Timely recognition and anti-herpes therapy may be beneficial to the outcomes. In the AIDS patients, anti-herpes therapy can reduce mortality effectively.

• A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

  Authors: Xianling Wang, Wenjun Sun, Yanhui Yang, Jianping Jia, Cunjuang Li

  Journal of the neurological sciences.

  BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism. This disorder is caused by MMACHC gene mutations,BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cblC type (cblC disease), is the most common inborn disorder of cobalamin metabolism. This disorder is caused by MMACHC gene mutations, and it is usually diagnosed in the early neonatal period. Late-onset cblC is rare and difficult to recognize due to a wide diversity of symptoms. METHODS: Three cases with late-onset combined methylmalonic aciduria and homocystinuria, cblC type, are reported; patients' clinical presentation, imaging and MMACHC gene mutations were analyzed. RESULTS: The age of onset in the three patients was 22years, 40years and 7years of age. Two of the patients had MMACHC gene mutations heterozygous for c.609G>A and c.482G>A (case 1 and case 3). The other patient (case 2) presented with gene mutations heterozygous for c.609G>A and c.1A>G. The three patients presented with a heterogeneous clinical picture, including cognitive impairment, epilepsy, ataxia, pyramidal and peripheral nerve symptoms. Cerebral atrophy and bilateral hyperintensity in the deep white matter were visible in MRI scans of the patients' brains; those were significant findings in the three patients with late-onset cblC disease. In contrast with previous reports, bilateral cerebellar cortex abnormalities were also found in one patient (case 2). CONCLUSION: Although its occurrence is rare, late-onset combined methylmalonic aciduria and homocystinuria, cblC type, should be considered in making a differential diagnosis in patients who present with neurological symptoms that are not consistent with common neurological diseases, especially when cognition, the pyramidal tract and peripheral nerves are involved.

• fMRI study in posterior cingulate and adjacent precuneus cortex in healthy elderly adults using problem solving task.

  Authors: Guangwei Jin, Kuncheng Li, Yulin Qin, Ning Zhong, Haiyan Zhou, Zhiqun Wang, Jie Xiang, Yingying Hu, Mingxiao Wang, Qingyu Zeng

  Journal of the neurological sciences.

  PURPOSE: To explore the blood oxygen level dependent (BOLD) response in the posterior cingulate cortex (PCC) and the adjacent precuneus regions in healthy elderly adults during problem solving tasks.PURPOSE: To explore the blood oxygen level dependent (BOLD) response in the posterior cingulate cortex (PCC) and the adjacent precuneus regions in healthy elderly adults during problem solving tasks. MATERIALS AND METHODS: Eighteen participants (7 women, mean age of 63.6±6.0years old) were analyzed. The functional magnetic resonance imaging (fMRI) tasks were simplified 4×4 Sudoku puzzles that were divided into simple tasks (using the row rule or the column rule to solve the puzzle) and complex tasks (using both the row and column rules to solve the puzzle). RESULTS: The mean accuracy on the simple task was higher than that on the complex task (P=0.04); the reaction time on the simple task was shorter than that on the complex task (P=0.001). On both tasks, the participants showed deactivation in the bilateral PCC/precuneus regions. The extent of deactivation on the complex task was greater than that on the simple task (left: P=0.04; right: P=0.04). CONCLUSIONS: Healthy elderly adults showed deactivation in the bilateral PCC and precuneus regions during a problem solving task; in addition, the extent of deactivation was enhanced by increasing the difficulty of the problem solving task.

• Successful response of non-recovering Ramsay Hunt syndrome to intravenous high dose methylprednisolone.

  Authors: Donatella Donati, Lorenzo De Santi, Federica Ginanneschi, Alfonso Cerase, Pasquale Annunziata

  Journal of the neurological sciences.

  Ramsay Hunt syndrome (RHS) is a frequent cause of facial palsy. It is a consequence of the infection of geniculate ganglion by herpes zoster or herpes simplex virus. In the lack of randomizedRamsay Hunt syndrome (RHS) is a frequent cause of facial palsy. It is a consequence of the infection of geniculate ganglion by herpes zoster or herpes simplex virus. In the lack of randomized controlled trials, RHS is empirically treated by a combination therapy of antiviral agents and steroids given orally. However, RHS has, per se, a poorer prognosis than idiopathic facial palsy (Bell's palsy). We describe a case series of two patients with RHS unsuccessfully treated with antiviral drugs and oral corticosteroids, showing an almost complete recovery after late administration of intravenous (i.v.) high dose methylprednisolone. Both patients had all recognized negative prognostic factors including age of onset, a high grade facial weakness, absence of R1 and R2 response at blink reflex test, and in the first case, the involvement of greater superficial petrosal nerve. We propose that i.v. high dose methylprednisolone should be considered, even as a late treatment option, in patients with RHS non recovering after standard antiviral and oral steroid therapy as well as presenting clinical features suggestive of a poor prognosis.

• Multiple strokes and bilateral carotid dissections: A fulminant case of newly diagnosed Ehlers-Danlos Syndrome Type IV.

  Authors: C Dohle, J M Baehring

  Journal of the neurological sciences.

  Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes haveEhlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications.

• Neuroprotective effect of fucoidin on lipopolysaccharide accelerated cerebral ischemic injury through inhibition of cytokine expression and neutrophil infiltration.

  Authors: Gu Hyun Kang, Bing Chun Yan, Geum-Sil Cho, Won-Ki Kim, Choong Hyun Lee, Jun Hwi Cho, Missok Kim, Il-Jun Kang, Moo-Ho Won, Jae-Chul Lee

  Journal of the neurological sciences.

  In our previous study, we reported that lipopolysaccharide (LPS) activated microglia and accelerated cerebral ischemic injury in the rat brain through the overexpression of cytokines in microglia. InIn our previous study, we reported that lipopolysaccharide (LPS) activated microglia and accelerated cerebral ischemic injury in the rat brain through the overexpression of cytokines in microglia. In the present study, we investigated the effect of the intraperitoneal administration of fucoidin, a potent inhibitor of leukocyte rolling and anti-inflammatory agent, against accelerated cerebral ischemic injury by LPS pretreatment using rats. We found that fucoidin treatment inhibited the expressions of some brain cytokine or chemokine mRNA such as IL-8, TNF-α and iNOS in the brain of the rats treated only with LPS. We also observed that fucoidin treatment dramatically decreased the infarct size in accelerated cerebral ischemic injury induced by LPS treatment at an early time after ischemic injury. In addition, the immunoreactivity of myleoperoxidase (MPO), a marker for quantifying neutrophil accumulation, was distinctively decreased in the ischemic brain of the fucoidin-treated rat. In brief, our results indicate that fucoidin showed a neuroprotective effect on LPS accelerated cerebral ischemic injury through inhibiting the expression of some cytokine/chemokine and neutrophil recruitments.

• Paroxysmal alternating nystagmus.

  Authors: Seong-Joon Lee, Sung-Yeon Sohn, Ji Soo Kim, So Young Moon

  Journal of the neurological sciences.

  Paroxysmal reversal of spontaneous nystagmus has rarely been described. Herein, we report recurrent bouts of vertigo and oscillopsia in association with reversed spontaneous nystagmus in a patientParoxysmal reversal of spontaneous nystagmus has rarely been described. Herein, we report recurrent bouts of vertigo and oscillopsia in association with reversed spontaneous nystagmus in a patient with prior surgical resection of the cerebellar vermis due to medulloblastoma and subsequent labyrinthine damage. The symptoms almost completely resolved with carbamazepine. The episodes may be ascribed to paroxysmal reversal of the vestibular asymmetry due to intermittent decompensation by the deficient cerebellum.

• Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

  Authors: Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin

  Journal of the neurological sciences.

  Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of theHereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (complex or complicated SPG). Pure SPG is characterised by progressive spasticity and weakness of the lower-limbs, and occasionally sensory disturbances or bladder dysfunction. Complex SPGs additionally include cognitive impairment, dementia, epilepsy, extrapyramidal disturbances, cerebellar involvement, retinopathy, optic atrophy, deafness, polyneuropathy, or skin lesions in the absence of coexisting disorders. Nineteen SPGs follow an autosomal-dominant (AD-SPG), 27 an autosomal-recessive (AR-SPG), 5 X-linked (XL-SPG), and one a maternal trait of inheritance. SPGs are due to mutations in genes encoding for proteins involved in the maintenance of corticospinal tract neurons. Among the AD-SPGs, 40-45% of patients carry mutations in the SPAST-gene (SPG4) and 10% in the ATL1-gene (SPG3), while the other 9 genes are more rarely involved (NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), RNT2 (SPG12), SPGD1 (SPG13), BSCL2 (SPG17), REEP1 (SPG31), ZFYVE27 (SPG33, debated), and SLC33A1 (SPG42, debated)). Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). Among the XL-SPGs, 3 causative genes have been identified (L1CAM (SPG1), PLP1 (SPG2), and SLC16A2 (SPG22)). The diagnosis of SPGs is based on clinical, instrumental and genetic investigations. Treatment is exclusively symptomatic.

• In vitro screening of NADPH oxidase inhibitors and in vivo effects of L-leucinethiol on experimental autoimmune encephalomyelitis-induced mice.

  Authors: Lakshmi Devi Kandagaddala, Min-Jung Kang, Md Mamunul Haque, Hye-Yeon Im, Ji-Eun Seo, Bong Chul Chung, Byung Hwa Jung, Tucker A Patterson, Oh-Seung Kwon

  Journal of the neurological sciences.

  Experimental autoimmune encephalomyelitis (EAE), a Th1 polarized demyelinating disease of the central nervous system, shares many pathological and clinical similarities with multiple sclerosis (MS).Experimental autoimmune encephalomyelitis (EAE), a Th1 polarized demyelinating disease of the central nervous system, shares many pathological and clinical similarities with multiple sclerosis (MS). The objectives of this study were i) to evaluate the suppressive effects of l-leucinethiol (LeuSH), a metalloprotease inhibitor on EAE-induced mice and ii) to study the effects of LeuSH on matrix metalloproteinase-9 (MMP-9), NADPH oxidase and cytokines (IFN-γ, IL-5 and IL-10) in tissues and plasma of EAE mice as a measure of potential markers associated with EAE disease. C57BL/6 mice were immunized with myelin oligodendrocyte glycoprotein (MOG35-55) peptide in complete Freund's adjuvant to induce EAE. A significant difference was observed in body weights and clinical signs of LeuSH (8mg/kg) administered EAE-induced mice compared to control mice. The findings of this study include alterations in the enzymatic expression of MMP-9, NADPH oxidase and cytokine levels in the brain, spinal cord, spleen, thymus and plasma of inhibitor-treated EAE mice as well as EAE-induced mice. The enzyme activities of NADPH oxidase were inhibited by LeuSH. From these results, it can be considered that LeuSH acts as one of the antigen candidates in ameliorating the clinical symptoms of EAE disease in mice.

• Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

  Authors: S Saredi, A Ardissone, A Ruggieri, E Mottarelli, L Farina, R Rinaldi, E Silvestri, C Gandioli, S D'Arrigo, F Salerno, L Morandi, P Grammatico, C Pantaleoni, I Moroni, M Mora

  Journal of the neurological sciences.

  Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated withCongenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain disease (MEB). Mutations in genes coding for proven or putative glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, and LARGE), the DPM3 gene encoding a DOL-P-Man synthase subunit, and the DAG1 gene encoding α-dystroglycan, have been associated with altered α-DG glycosylation. We report new POMGnT1 mutations and evaluate protein expression in 3 patients and 2 foetuses with variably severe MEB features. We identify two new point mutations (c.643C>T, c.1863delC), one new intragenic rearrangement (deletion of exons 2-8), and a new intron retention (between exons 21 and 22) resulting from a known point mutation c.1895+1G>T. Our study provides further evidence that rearrangements of the POMGnT1 gene are relatively common. Importantly, if heterozygous, they can be missed on standard genomic DNA sequencing. POMGNT1 protein analysis in 3 patients showed that the severity of the phenotype does not correlate with protein expression. Cerebral MRI is important for identifying MEB and α-dystroglycanopathy phenotypes in children and foetuses, and hence for directing the genetic analysis.

• IgG4-related inflammatory pseudotumor of the central nervous system responsive to mycophenolate mofetil.

  Authors: Heather E Moss, Luis J Mejico, Gustavo de la Roza, Thomas M Coyne, Steven L Galetta, Grant T Liu

  Journal of the neurological sciences.

  Orbital apex and skull base masses often present with neuro-ophthalmic signs and symptoms. Though the localization of these syndromes and visualization of the responsible lesion on imaging isOrbital apex and skull base masses often present with neuro-ophthalmic signs and symptoms. Though the localization of these syndromes and visualization of the responsible lesion on imaging is typically straightforward, definitive diagnosis usually relies on biopsy. Immunohistochemistry is important for categorization and treatment planning. IgG4-related disease is emerging as a pathologically defined inflammatory process that can occur in multiple organ systems. We present two patients with extensive inflammatory mass lesions of the central nervous system with immunohistochemistry positive for IgG4 and negative for ALK-1 as examples of meningeal based IgG4-related inflammatory pseudotumors. In both patients, there was treatment response to mycophenolate mofetil.

• Coenzyme Q10 deficiency in patients with Parkinson's disease.

  Authors: Laurie K Mischley, Jason Allen, Ryan Bradley

  Journal of the neurological sciences.

  Reactive oxygen species (ROS) are well known to contribute to the pathophysiology of Parkinson's disease (PD). Clinical trials of antioxidants are currently underway in PD patients, however,Reactive oxygen species (ROS) are well known to contribute to the pathophysiology of Parkinson's disease (PD). Clinical trials of antioxidants are currently underway in PD patients, however, antioxidant research has been hindered by a lack of peripheral biomarkers. METHODS: Twenty-two patients with PD elected to have a novel antioxidant assessment (Functional Intracellular Assay (FIA), SpectraCell Lab, Houston, TX) performed between 2004 and 2008. Each PD case was compared to four age- and gender-matched controls (n=88) in four separate, random iterations using laboratory data submitted during the same time period. Logistic regression was used to determine the odds of functional deficiency in antioxidant nutrients (i.e., glutathione, coenzyme Q10, selenium, vitamin E and alpha-lipoic acid) by case-control status. The proportion of cases with functional deficiency was also compared to that for controls by chi(2) test. RESULTS: Compared to cases, PD patients had a significantly greater odds of deficiency in coenzyme Q10 status (OR: 4.7-5.4; 95% CI: 1.5-17.7; P=0.003-0.009) based on FIA results, but not of vitamin E, selenium, lipoic acid, or glutathione (all P>0.05). The proportion of cases with coenzyme Q10 deficiency was also significantly greater in cases than in controls (32-36% vs. 8-9%; P=0.0012-0.006). CONCLUSIONS: Deficiency of coenzyme Q10 assessed via FIA should be explored as a potential peripheral biomarker of antioxidant status in PD.

• Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers.

  Authors: G Diane Shelton, Gayle C Johnson, Dennis P O'Brien, Martin L Katz, Jill P Pesayco, Brian J Chang, Andrew P Mizisin, Joan R Coates

  Journal of the neurological sciences.

  Canine degenerative myelopathy (DM) is an adult-onset, fatal neurodegenerative disease with many similarities to an upper-motor-neuron-onset form of human amyotrophic lateral sclerosis (ALS), thatCanine degenerative myelopathy (DM) is an adult-onset, fatal neurodegenerative disease with many similarities to an upper-motor-neuron-onset form of human amyotrophic lateral sclerosis (ALS), that results from mutations in the superoxide dismutase (SOD1) gene. DM occurs in many dog breeds, including the Pembroke Welsh Corgi and Boxer. The initial upper motor neuron degeneration produces spastic paraparesis and affected dogs develop general proprioceptive ataxia in the pelvic limbs. Dog owners usually elect euthanasia when their dog becomes paraplegic. When euthanasia is delayed, lower motor neuron signs including ascending tetraparesis, flaccid paralysis and widespread muscle atrophy emerge. For this study, muscle and peripheral nerve specimens were evaluated at varying disease stages from DM-affected Pembroke Welsh Corgis and Boxers that were homozygous for the SOD1 mutation and had spinal cord histopathology consistent with DM. Comparisons were made with age- and breed-matched control dogs. Here we provide evidence that Pembroke Welsh Corgis and Boxers with chronic DM develop muscle atrophy consistent with denervation, peripheral nerve pathology consistent with an axonopathy, and to a lesser degree demyelination. Canine DM has been proposed as a potential spontaneous animal disease model of human ALS. The results of this study provide further support that canine DM recapitulates one form of the corresponding human disorder and should serve as a valuable animal model to develop therapeutic strategies.

• Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography.

  Authors: Tomoko Komagamine, Mitsuru Kawai, Norito Kokubun, Satoko Miyatake, Katsuhisa Ogata, Yukiko K Hayashi, Ichizo Nishino, Koichi Hirata

  Journal of the neurological sciences.

  Mutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter andMutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. We investigated whether there is a characteristic muscle involvement in both sexes. Despite the variety of symptoms exhibited by the male and female patients, the systemic imaging studies showed a similar pattern: the flexor muscles of the brachium and thigh were affected earlier than the extensor muscle with a profound degeneration of the paraspinal muscles. These findings may include one of the characteristic clinical features for suspecting a mutation in the second LIM domain.

• The frontotemporal dementias in a tertiary referral center: Classification and demographic characteristics in a series of 232 cases.

  Authors: Panagiotis Ioannidis, Elina Konstantinopoulou, Pantelis Maiovis, Dimitris Karacostas

  Journal of the neurological sciences.

  BACKGROUND: Frontotemporal lobar degeneration (FTLD) comprises of behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) with its 3 main variants, namelyBACKGROUND: Frontotemporal lobar degeneration (FTLD) comprises of behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) with its 3 main variants, namely nonfluent/agrammatic (naPPA), semantic (svPPA) and logopenic (lvPPA). Recently a clinical syndrome with predominant right temporal atrophy was recognized (rvFTD). FTLD often overlaps with parkinsonism plus syndromes such as corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP), as well as with motor neuron disease (FTD-MND). While FTLD syndromes were thought to be rare and difficult to diagnose ante mortem, revised diagnostic criteria as well as recent studies highlighted the plausibility of accurate clinical diagnosis. METHODS: 232 FTLD patients were assessed from January 1, 2003 to December 31, 2010 in the Neurology Department of a tertiary referral center. Patients were classified as bvFTD, naPPA, svPPA, lvPPA, CBD/PSP and rvFTD and their demographic characteristics were analyzed. RESULTS: From the 232 patients, 111 (47.8%) were diagnosed with bvFTD, 56 (24.1%) with naPPA, 21 (9.1%) with svPPA, 6 (2.6%) with lvPPA, 20 (8.6%) with CBD or PSP and 18 (7.8%) with rvFTD. 44% of the patients were under 65years old at onset of symptoms, while only 4.3% reported family history of dementia. FTLD subgroups did not differ with respect to demographic characteristics, but early onset cases had higher educational level. DISCUSSION: FTLD represents a syndrome with different but clinically distinguishable phenotypes. Cultural, educational and socioeconomic status differences might regulate patients' access to medical care and therefore influence age of reported onset and prevalence of FTLD in clinical studies. High clinical alertness and sensitive neuropsychological tests could lead to timely clinical diagnosis in a common presenile type of dementia.

• An unusual cause of visual impairment in tuberculous meningitis.

  Authors: Hardeep Singh Malhotra, Ravindra Kumar Garg, Arvind Gupta, Sandeep Saxena, Aloy Majumdar, Amita Jain

  Journal of the neurological sciences.

  Impairment of vision is a devastating complication of tuberculous meningitis which may occur as a result of increased intracranial pressure, compression over the visual pathways or vasculitis. WeImpairment of vision is a devastating complication of tuberculous meningitis which may occur as a result of increased intracranial pressure, compression over the visual pathways or vasculitis. We herein present occurrence of neuroretinitis in a 35-year-old lady presenting with low grade fever and headache for one month, and associated with diminution of vision from 3weeks. She was diagnosed as a case of definite tuberculous meningitis and initiated on anti-tuberculous treatment as per WHO guidelines with supplemental corticosteroids. Marked improvement in vision was observed and at 3months of follow-up the patient was asymptomatic. Direct ophthalmoscopy, visual field analysis, fluorescein angiography, optical coherence tomography and magnetic resonance imaging of the brain were done to document the ophthalmological findings. Neuroretinitis, being an unusual cause of visual impairment in tuberculous meningitis, must be considered in patients without any evidence of raised intracranial pressure or compression, and with normal fluorescein angiography. We suggest that neuroretinitis may be added to list of causes of visual impairment in patients with tuberculous meningitis.

• Association of LPL gene variant and LDL, HDL, VLDL cholesterol and triglyceride levels with ischemic stroke and its subtypes.

  Authors: Anjana Munshi, M Sai Babu, Subhash Kaul, K Rajeshwar, N Balakrishna, A Jyothy

  Journal of the neurological sciences.

  Lipoprotein lipase (LPL) plays an important role in lipid metabolism by hydrolyzing triglycerides in chylomicrons and very low density lipoproteins. An increasing number of studies have suggested anLipoprotein lipase (LPL) plays an important role in lipid metabolism by hydrolyzing triglycerides in chylomicrons and very low density lipoproteins. An increasing number of studies have suggested an association of LPL gene variants with the risk of cardiovascular and cerebrovascular diseases. The aim of this study was to test whether HindIII polymorphism of LPL gene is associated with ischemic stroke and its subtypes as well as plasma lipid levels in a South Indian population from Andhra Pradesh. Five hundred and twenty five ischemic stroke patients and 500 controls were enrolled in this case-control study. The LPL HindIII polymorphism was determined by PCR-RFLP technique and the lipid levels were estimated using commercially available kits. We found significant difference in the genotypic distribution between patients and controls [for HindIII (+/+) vs. HindIII (-/-), χ(2)=4.916; p=0.02; Odds ratio=1.59 (95%CI; 1.054-2.413); HindIII (+/+) vs. HindIII (-/-) and HindIII (+/-), χ(2)=5.25; p=0.02; Odds ratio=1.24 (95%CI; 1.03-1.503)]. A stepwise multiple logistic regression analysis confirmedthese findings. The relationship between HindIII genotypes and plasma levels of HDL, LDL, VLDL and triglycerides was analyzed using ANOVA and further confirmed by Post-hoc analysis. The levels of triglycerides were found to be elevated in individuals bearing HindIII (+/+) genotype in comparison with HindIII (-/-) genotype. HDL levels were found to be significantly reduced and triglyceride levels significantly elevated in HindIII (+/+) genotype in comparison with HindIII (-/-). However, there was no difference in the levels of LDL and VLDL between the two genotypes. Examining the association of LPL gene HindIII polymorphism with stroke subtypes, we found significant association of HindIII polymorphism with Intracranial large artery atherosclerosis [Odds ratio=2.12 955CI (1.656-2.848); p=0.009]. Our results suggest that the HindIII polymorphism of LPL is significantly associated with ischemic stroke risk and elevated levels of plasma triglycerides and reduced HDL levels. Further, this polymorphism is significantly associated with intracranial large artery atherosclerosis which is the most frequent subtype in our region.

• Abnormal baseline brain activity in low-grade hepatic encephalopathy: A resting-state fMRI study.

  Authors: Hua-Jun Chen, Xi-Qi Zhu, Yun Jiao, Pei-Cheng Li, Yu Wang, Gao-Jun Teng

  Journal of the neurological sciences.

  Resting-state functional magnetic resonance imaging (fMRI) has been used to detect the alterations of spontaneous neuronal activity in various neuropsychiatric diseases, but rarely in low-gradeResting-state functional magnetic resonance imaging (fMRI) has been used to detect the alterations of spontaneous neuronal activity in various neuropsychiatric diseases, but rarely in low-grade hepatic encephalopathy (HE), a common neuropsychiatric complication of liver cirrhosis. We conducted a resting-state fMRI in 19 healthy controls, 18 cirrhotic patients without HE, and 22 cirrhotic patients with low-grade HE. The amplitude of low-frequency fluctuations (ALFF) of fMRI signal was computed to measure the spontaneous neuronal activity. Several regions showing significant ALFF differences among three groups were the precuneus, occipital lobe, left frontal lobe and anterior/middle cingulate cortex, and left cerebellum posterior lobe. Compared to controls or patients without HE, patients with low-grade HE showed decreased ALFF in the precuneus and adjacent cuneus, visual cortex, and left cerebellum posterior lobe. Compared to controls, patients with low-grade HE showed higher ALFF in both cortical and subcortical regions, including the right middle cingulate gyrus, and left anterior/middle cingulate gyrus, inferior frontal gyrus, insula lobe, parahippocampal gyrus, middle temporal gyrus and lentiform nucleus; compared to patients without HE, patients with low-grade HE showed higher ALFF in the left medial frontal gyrus and anterior cingulate gyrus, bilateral superior frontal gyrus, and right middle frontal gyrus. Moreover, correlations between ALFF changes and poor neurocognitive performances were found in patients with low-grade HE. These results suggested the existence of aberrant brain activity at the baseline state in low-grade HE, which may be implicated in the neurological pathophysiology underlying HE.

• Blast-induced moderate neurotrauma (BINT) elicits early complement activation and tumor necrosis factor alpha (TNFα) release in a rat brain.

  Authors: Jurandir J Dalle Lucca, Mikulas Chavko, Michael A Dubick, Saleena Adeeb, Michael J Falabella, Jessica L Slack, Richard McCarron, Yansong Li

  Journal of the neurological sciences.

  Blast-induced neurotrauma (BINT) is a major medical concern yet its etiology is largely undefined. Complement activation may play a role in the development of secondary injury following traumaticBlast-induced neurotrauma (BINT) is a major medical concern yet its etiology is largely undefined. Complement activation may play a role in the development of secondary injury following traumatic brain injury; however, its role in BINT is still undefined. The present study was designed to characterize the complement system and adaptive immune-inflammatory responses in a rat model of moderate BINT. Anesthetized rats were exposed to a moderate blast (120kPa) using an air-driven shock tube. Brain tissue injury, systemic and local complement, cerebral edema, inflammatory cell infiltration, and pro-inflammatory cytokine production were measured at 0.5, 3, 48, 72, 120, and 168h. Injury to brain tissue was evaluated by histological evaluation. Systemic complement was measured via ELSIA. The remaining measurements were determined by immunohistoflourescent staining. Moderate blast triggers moderate brain injuries, elevated levels of local brain C3/C5b-9 and systemic C5b-9, increased leukocyte infiltration, unregulated tumor necrosis factor alpha (TNFα), and aquaporin-4 in rat brain cortex at 3- and 48-hour post blast. Early immune-inflammatory response to BINT involves complement and TNFα, which correlates with hippocampus and cerebral cortex damage. Complement and TNFα activation may be a novel therapeutic target for reducing the damaging effects of BINT inflammation.

• Nocturnal disturbances and restlessness in Parkinson's disease: Using the Japanese version of the Parkinson's disease sleep scale-2.

  Authors: Keisuke Suzuki, Masayuki Miyamoto, Tomoyuki Miyamoto, Muneto Tatsumoto, Yuka Watanabe, Shiho Suzuki, Masaoki Iwanami, Tsubasa Sada, Taro Kadowaki, Ayaka Numao, Claudia Trenkwalder, Koichi Hirata

  Journal of the neurological sciences.

  OBJECTIVE: The aim of this study was to assess the validity and the reliability of the Japanese version of the Parkinson's disease sleep scale (PDSS)-2 and to use this scale to identify nocturnalOBJECTIVE: The aim of this study was to assess the validity and the reliability of the Japanese version of the Parkinson's disease sleep scale (PDSS)-2 and to use this scale to identify nocturnal symptoms and their impact on patient's quality of life. METHODS: A cross-sectional, case-controlled study was conducted consisting of 93 patients with Parkinson's disease (PD) and 93 age- and gender-matched control subjects. The Japanese version of the PDSS-2 was used for the evaluation of nocturnal disturbances. The patient's quality of life was evaluated with the Parkinson's Disease Quality of Life questionnaire (PDQ-39) and their depressive symptoms were assessed with the Beck Depression Inventory-II (BDI-II), respectively. In addition, the Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) and Parkinson Fatigue Scale (PFS) were administered. RESULTS: As assessed using the PDSS-2, PD patients had significantly impaired scores compared with control subjects (15.0±9.7 vs. 9.1±6.6, p<0.001). The ESS, BDI-II and PFS scores were significantly impaired in PD patients compared with controls. A satisfactory internal consistency and test-retest reliability score were obtained for the PDSS-2 total score (Cronbach's alpha=0.86). The PDSS-2 was correlated with the PSQI, ESS, BDI-II, PFS, PDQ-39 summary index, all of the PDQ-39 domains and Unified Parkinson's Disease Rating Scale part III. The frequency of restless legs syndrome (RLS) was not significantly different between PD patients and controls (5.5% vs. 2.2%), but nocturnal restlessness was significantly more frequent in PD patients than controls. Stepwise linear regression analyses revealed the PDQ-39 summary index and the PSQI global score as significant predictors for the PDSS-2 total score. CONCLUSIONS: Our study confirmed the usefulness of the Japanese version of the PDSS-2 that enables the comprehensive assessment of nocturnal disturbances in PD. The association between RLS and nocturnal restlessness in PD requires further study.

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