Neurology (Neurology)

Publications in this journal

• Article: Genetic risk variants in African Americans with multiple sclerosis.

  Noriko Isobe, Pierre-Antoine Gourraud, Hanne F Harbo, Stacy J Caillier, Adam Santaniello, Pouya Khankhanian, Martin Maiers, Stephen Spellman, Nezih Cereb, Sooyoung Yang, Marcelo J Pando, Laura Piccio, Anne H Cross, Philip L De Jager, Bruce A C Cree, Stephen L Hauser, Jorge R Oksenberg
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  ABSTRACT: OBJECTIVES: To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls). METHODS: Human leukocyte antigen (HLA)-DRB1, HLA-DQB1, and HLA-A alleles were typed by molecular techniques. Single nucleotide polymorphism (SNP) genotyping was conducted for 76 MS-associated SNPs and 52 ancestry informative marker SNPs selected throughout the genome. Self-declared ancestry was refined by principal component analysis of the ancestry informative marker SNPs. An ancestry-adjusted multivariate model was applied to assess genetic associations. RESULTS: The following major histocompatibility complex risk alleles were replicated: HLA-DRB1*15:01 (odds ratio [OR] = 2.02 [95% confidence interval: 1.54-2.63], p = 2.50e-07), HLA-DRB1*03:01 (OR = 1.58 [1.29-1.94], p = 1.11e-05), as well as HLA-DRB1*04:05 (OR = 2.35 [1.26-4.37], p = 0.007) and the African-specific risk allele of HLA-DRB1*15:03 (OR = 1.26 [1.05-1.51], p = 0.012). The protective association of HLA-A*02:01 was confirmed (OR = 0.72 [0.55-0.93], p = 0.013). None of the HLA-DQB1 alleles were associated with MS. Using a significance threshold of p < 0.01, outside the major histocompatibility complex region, 8 MS SNPs were also found to be associated with MS in African Americans. CONCLUSION: MS genetic risk in African Americans only partially overlaps with that of Europeans and could explain the difference of MS prevalence between populations.
  Neurology 06/2013;
• Article: Limited short-term prognostic utility of cerebral NIRS during neonatal therapeutic hypothermia.

  Renée A Shellhaas, Brian J Thelen, Jayapalli R Bapuraj, Joseph W Burns, Aaron W Swenson, Mary K Christensen, Stephanie A Wiggins, John D E Barks
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  ABSTRACT: OBJECTIVE: We evaluated the utility of amplitude-integrated EEG (aEEG) and regional oxygen saturation (rSO2) measured using near-infrared spectroscopy (NIRS) for short-term outcome prediction in neonates with hypoxic ischemic encephalopathy (HIE) treated with therapeutic hypothermia. METHODS: Neonates with HIE were monitored with dual-channel aEEG, bilateral cerebral NIRS, and systemic NIRS throughout cooling and rewarming. The short-term outcome measure was a composite of neurologic examination and brain MRI scores at 7 to 10 days. Multiple regression models were developed to assess NIRS and aEEG recorded during the 6 hours before rewarming and the 6-hour rewarming period as predictors of short-term outcome. RESULTS: Twenty-one infants, mean gestational age 38.8 ± 1.6 weeks, median 10-minute Apgar score 4 (range 0-8), and mean initial pH 6.92 ± 0.19, were enrolled. Before rewarming, the most parsimonious model included 4 parameters (adjusted R(2) = 0.59; p = 0.006): lower values of systemic rSO2 variability (p = 0.004), aEEG bandwidth variability (p = 0.019), and mean aEEG upper margin (p = 0.006), combined with higher mean aEEG bandwidth (worse discontinuity; p = 0.013), predicted worse short-term outcome. During rewarming, lower systemic rSO2 variability (p = 0.007) and depressed aEEG lower margin (p = 0.034) were associated with worse outcome (model-adjusted R(2) = 0.49; p = 0.005). Cerebral NIRS data did not contribute to either model. CONCLUSIONS: During day 3 of cooling and during rewarming, loss of physiologic variability (by systemic NIRS) and invariant, discontinuous aEEG patterns predict poor short-term outcome in neonates with HIE. These parameters, but not cerebral NIRS, may be useful to identify infants suitable for studies of adjuvant neuroprotective therapies or modification of the duration of cooling and/or rewarming.
  Neurology 06/2013;
• Article: Brain injury and development in newborns with critical congenital heart disease.

  Anastasia Dimitropoulos, Patrick S McQuillen, Viyeka Sethi, Alisha Moosa, Vann Chau, Duan Xu, Rollin Brant, Anthony Azakie, Andrew Campbell, A James Barkovich, Kenneth J Poskitt, Steven P Miller
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  ABSTRACT: OBJECTIVE: To determine the relationship between radiologically identifiable brain injuries and delayed brain development as reflected by brain metabolic and microstructural integrity. METHODS: Term newborns with congenital heart disease (CHD) (120 preoperatively and 104 postoperatively) were studied with MRI to determine brain injury severity (BIS), microstructure reflected by fractional anisotropy (FA) and average diffusivity (Dav), and metabolism reflected by N-acetylaspartate (NAA)/choline (Cho) and lactate/Cho. Brain development is characterized by increasing NAA/Cho and white matter FA, and by decreasing Dav and lactate/Cho. RESULTS: Newly acquired brain injury was common (41% preoperative, 30% postoperative). Lower white matter FA (p = 0.005) and lower NAA/Cho (p = 0.01) were associated with increasing preoperative BIS. Higher neonatal illness severity scores (p = 0.03), lower preoperative oxygen saturation (p = 0.002), hypotension (p < 0.001), and septostomy (p = 0.002) were also predictive of higher preoperative BIS. Preoperative FA, Dav, and NAA/Cho did not predict new postoperative BIS. Increasing preoperative BIS predicted higher postoperative Dav (p = 0.002) and lactate/Cho (p = 0.008). Within the postoperative scan, new brain injuries were associated with lower white matter FA (p = 0.04). Postoperative BIS (new lesions) was associated with lower postoperative systolic (p = 0.03) and mean (p = 0.05) blood pressures. CONCLUSIONS: Brain injuries in newborns with CHD are strongly related to abnormalities of brain microstructural and metabolic brain development, especially preoperatively. Both newly acquired preoperative and postoperative brain injuries are related to potentially modifiable clinical risk factors.
  Neurology 06/2013;
• Article: A closer look at the brain of newborn infants with a congenital heart defect.

  Selma O Algra, L S de Vries
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  ABSTRACT: Since the introduction of open-heart surgery for congenital heart disease (CHD) in the 1950s, there have been major advances in surgical techniques, which have resulted in a survival rate of more than 90% in neonates undergoing these procedures. While this is good news for those born with complex CHD such as hypoplastic left heart syndrome (HLHS), we are increasingly aware that infants who require cardiac surgery during the first weeks after birth are at increased risk of neurodevelopmental morbidity, even accounting for those with underlying genetic problems.
  Neurology 06/2013;
• Article: Using iron oxide nanoparticles to diagnose CNS inflammatory diseases and PCNSL.

  Brian T Farrell, Bronwyn E Hamilton, Edit Dósa, Endre Rimely, Morad Nasseri, Seymur Gahramanov, Cynthia A Lacy, Eugene P Frenkel, Nancy D Doolittle, Paula M Jacobs, Edward A Neuwelt
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  ABSTRACT: OBJECTIVE: The study goal was to assess the benefits and potential limitations in the use of ultrasmall superparamagnetic iron oxide (USPIO) nanoparticles in the MRI diagnosis of CNS inflammatory diseases and primary CNS lymphoma. METHODS: Twenty patients with presumptive or known CNS lesions underwent MRI study. Eighteen patients received both gadolinium-based contrast agents (GBCAs) and 1 of 2 USPIO contrast agents (ferumoxytol and ferumoxtran-10) 24 hours apart, which allowed direct comparative analysis. The remaining 2 patients had only USPIO-enhanced MRI because of a renal contraindication to GBCA. Conventional T1- and T2-weighted MRI were acquired before and after contrast administration in all patients, and perfusion MRI for relative cerebral blood volume (rCBV) assessment was obtained in all 9 patients receiving ferumoxytol. RESULTS: USPIO-enhanced MRI showed an equal number of enhancing brain lesions in 9 of 18 patients (50%), more enhancing lesions in 2 of 18 patients (11%), and fewer enhancing lesions in 3 of 18 patients (17%) compared with GBCA-enhanced MRI. Four of 18 patients (22%) showed no MRI enhancement. Dynamic susceptibility-weighted contrast-enhanced perfusion MRI using ferumoxytol showed low rCBV (ratio <1.0) in 3 cases of demyelination or inflammation, modestly elevated rCBV in 5 cases of CNS lymphoma or lymphoproliferative disorder (range: 1.3-4.1), and no measurable disease in one case. CONCLUSIONS: This study showed that USPIO-enhanced brain MRI can be useful in the diagnosis of CNS inflammatory disorders and lymphoma, and is also useful for patients with renal compromise at risk of nephrogenic systemic fibrosis who are unable to receive GBCA.
  Neurology 06/2013;
• Article: Dementia and lower blood pressure in Latin America, India, and China: A 10/66 cross-cohort study.

  Emiliano Albanese, Flavia L Lombardo, Martin J Prince, Robert Stewart
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  ABSTRACT: OBJECTIVE: To study the relationship between dementia and blood pressure (BP) in 8 low- and middle-income countries. METHODS: In identical cross-sectional surveys of older adults (aged 65 years and older) conducted in Cuba, Dominican Republic, Peru, Venezuela, Mexico, Puerto Rico, China, and India (n = 15,746), we measured systolic and diastolic BP and used the 10/66 prevalidated algorithms to adjudicate dementia diagnosis and quantify dementia severity (Clinical Dementia Rating [CDR]). RESULTS: BP levels, dementia prevalence, and participants' sociodemographic and health characteristics varied across sites. In fixed-effect meta-analyses of site-specific linear regression coefficients adjusted for potential confounders, dementia and CDR were cross-sectionally associated with lower systolic BP (β = -1.7, 95% confidence interval [CI]: -2.8, -0.6; and β = -1.1, 95% CI: -1.5, -0.7) and diastolic BP (β = -0.4, 95% CI: -1.1, 0.2; and β = -0.4, 95% CI: -0.7, -0.2). Associations were heterogeneous across sites for both dementia (I(2) < 47%) and CDR (I(2) < 75%), and were strongest in Cuba, where prevalence of hypertension was highest. Results were robust to alternative model specifications that accounted for hypertensive status, antihypertensive treatment, and leanness (i.e., smaller waist circumference). CONCLUSION: The association between dementia and lower BP was heterogeneous across geographically diverse samples, strongest where prevalent hypertension was highest (in Cuba), and relatively small compared with that found in Western settings. Both the mechanisms and the extent to which different levels of lifetime hypertensive disease explain this heterogeneity remain uncertain. However, because rapid increments in both dementia and hypertension are predicted in low- and middle-income countries, closer monitoring is warranted.
  Neurology 06/2013;
• Article: Multiparametric MRI study of ALS stratified for the C9orf72 genotype.

  Peter Bede, Arun L W Bokde, Susan Byrne, Marwa Elamin, Russell L McLaughlin, Kevin Kenna, Andrew J Fagan, Niall Pender, Daniel G Bradley, Orla Hardiman
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  ABSTRACT: OBJECTIVE: To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. METHODS: A prospective, single-center, single-protocol, gray and white matter magnetic resonance case-control imaging study was undertaken with 30 C9orf72-negative patients with ALS, 9 patients with ALS carrying the C9orf72 hexanucleotide repeat expansion, and 44 healthy controls. Tract-based spatial statistics of multiple white matter diffusion parameters, cortical thickness measurements, and voxel-based morphometry analyses were carried out. All patients underwent comprehensive genetic and neuropsychological profiling. RESULTS: A congruent pattern of cortical and subcortical involvement was identified in those with the C9orf72 genotype, affecting fusiform, thalamic, supramarginal, and orbitofrontal regions and the Broca area. White matter abnormalities in the C9orf72-negative group were relatively confined to corticospinal and cerebellar pathways with limited extramotor expansion. The body of the corpus callosum and superior motor tracts were affected in both ALS genotypes. CONCLUSIONS: Extensive cortical and subcortical frontotemporal involvement was identified in association with the C9orf72 genotype, compared to the relatively limited extramotor pathology in patients with C9orf72-negative ALS. The distinctive, genotype-specific pathoanatomical patterns are consistent with the neuropsychological profile of the 2 ALS cohorts. Our findings suggest that previously described extramotor changes in ALS could be largely driven by those with the C9orf72 genotype.
  Neurology 06/2013;
• Article: Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?

  Roberto Ceravolo, Valentina Nicoletti, Barbara Garavaglia, Chiara Reale, Lorenzo Kiferle, Ubaldo Bonuccelli
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  ABSTRACT: Autosomal dominantly inherited mutations in the GTP cyclohydrolase 1 (GCH1) gene are associated with dopamine-responsive dystonia (DRD), also known as DYT5.(1) Rare atypical presentations have been described,(2) including adulthood Parkinson disease (PD) with in vivo evidence of nigrostriatal degeneration.(3.)
  Neurology 06/2013;
• Article: Development and validation of a clinical guideline for diagnosing blepharospasm.

  Giovanni Defazio, Mark Hallett, Hyder A Jinnah, Alfredo Berardelli
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  ABSTRACT: OBJECTIVE: To design and validate a clinical diagnostic guideline for aiding physicians in confirming or refuting suspected blepharospasm. METHODS: The guideline was developed and validated in a 3-step procedure: 1) identification of clinical items related to the phenomenology of blepharospasm, 2) assessment of the relevance of each item to the diagnosis of blepharospasm, and 3) evaluation of the reliability and diagnostic sensitivity/specificity of the selected clinical items. RESULTS: Of 19 clinical items initially identified, 7 were admitted by content validity analysis to further assessment. Both neurologists and ophthalmologists achieved satisfactory interobserver agreement for all 7 items, including "involuntary eyelid narrowing/closure due to orbicularis oculi spasms," "bilateral spasms," "synchronous spasms," "stereotyped spasm pattern," "sensory trick," "inability to voluntarily suppress the spasms," and "blink count at rest." Each selected item yielded unsatisfactory accuracy in discriminating patients with blepharospasm from healthy subjects and patients with other eyelid disturbances. Combining the selected items, however, improved diagnostic sensitivity/specificity. The best combination, yielding 93% sensitivity and 90% specificity, was an algorithm starting with the item "stereotyped, bilateral, and synchronous orbicularis oculi spasms inducing eyelid narrowing/closure" and followed by recognition of "sensory trick" or, alternatively, "increased blinking." CONCLUSION: This study provides an accurate and valid clinical guideline for diagnosing blepharospasm. Use of this guideline would make it easier for providers to recognize dystonia in clinical and research settings.
  Neurology 06/2013;
• Article: MRI and MRS predictors of mild cognitive impairment in a population-based sample.

  Kejal Kantarci, Stephen D Weigand, Scott A Przybelski, Gregory M Preboske, V Shane Pankratz, Prashanthi Vemuri, Matthew L Senjem, Matthew C Murphy, Jeffrey L Gunter, Mary M Machulda, Robert J Ivnik, Rosebud O Roberts, Bradley F Boeve, Walter A Rocca, David S Knopman, Ronald C Petersen, Clifford R Jack
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  ABSTRACT: OBJECTIVE: To investigate MRI and proton magnetic resonance spectroscopy (MRS) predictors of mild cognitive impairment (MCI) in cognitively normal older adults. METHODS: Subjects were cognitively normal older adults (n = 1,156) who participated in the population-based Mayo Clinic Study of Aging MRI/MRS study from August 2005 to December 2010 and had at least one annual clinical follow-up. Single-voxel MRS was performed from the posterior cingulate gyri, and hippocampal volumes and white matter hyperintensity volumes were quantified using automated methods. Brain infarcts were assessed on MRI. Cox proportional hazards regression, with age as the time scale, was used to assess the effect of MRI and MRS markers on the risk of progression from cognitively normal to MCI. Linear mixed-effects models were used to assess the effect of MRI and MRS markers on cognitive decline. RESULTS: After a median follow-up of 2.8 years, 214 participants had progressed to MCI or dementia (estimated incidence rate = 6.1% per year; 95% confidence interval = 5.3%-7.0%). In univariable modeling, hippocampal volume, white matter hyperintensity volume, and N-acetylaspartate/myo-inositol were significant predictors of MCI in cognitively normal older adults. In multivariable modeling, only decreased hippocampal volume and N-acetylaspartate/myo-inositol were independent predictors of MCI. These MRI/MRS predictors of MCI as well as infarcts were associated with cognitive decline (p < 0.05). CONCLUSION: Quantitative MRI and MRS markers predict progression to MCI and cognitive decline in cognitively normal older adults. MRS may contribute to the assessment of preclinical dementia pathologies by capturing neurodegenerative changes that are not detected by hippocampal volumetry.
  Neurology 06/2013;
• Article: Evaluation of an albumin-binding gadolinium contrast agent in multiple sclerosis.

  Stéphane Kremer, Julien Lamy, Antoine Magnus, Hélène Oesterle, Jeremy Jeantroux, Stéphanie Trunet, Jean-Paul Armspach, Jean-Louis Dietemann, Jérôme de Sèze
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  ABSTRACT: OBJECTIVE: The first goal of this study is to compare gadofosveset trisodium-a gadolinium agent that reversibly binds to albumin-to an extracellular contrast agent (Gd-DOTA) for the detection of multiple sclerosis lesions. The second goal is to determine the best postinjection time for the detection of contrast-enhanced lesions. METHODS: Nine patients underwent 2 MRI examinations, respectively, after Gd-DOTA (0.1 mmol/kg) and gadofosveset trisodium (0.03 mmol/kg) administration. Axial T1 spin-echo-weighted images were acquired at several time points after injection (4 minutes for Gd-DOTA, and 4, 8, 12, 16, 20 minutes, 1 hour, and 4 hours for gadofosveset trisodium). Images were analyzed by 4 neuroradiologists who marked the contrast-enhanced lesions and, for each marked lesion, chose the acquisition they preferred and segmented the lesion on their preferred acquisition. RESULTS: The 4-hour gadofosveset trisodium acquisition was ranked best for the 3 tasks: contrast-enhanced lesions were seen by more readers, they preferred this acquisition, and improvements of the signal enhancement (125%) and of the contrast-to-noise ratio (73%) vs Gd-DOTA at 4 minutes were observed (p < 0.05). CONCLUSION: Gadofosveset trisodium after 4 hours significantly improves the number of detected contrast-enhanced multiple sclerosis lesions as compared to Gd-DOTA after 4 minutes, even though the injected dose of gadolinium was two-thirds lower.
  Neurology 06/2013;
• Article: Prospective study of restless legs syndrome and mortality among men.

  Yanping Li, Wei Wang, John W Winkelman, Atul Malhotra, Jing Ma, Xiang Gao
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  ABSTRACT: OBJECTIVE: To prospectively examine whether men with restless legs syndrome (RLS) had an increased risk of mortality. METHOD: This was a prospective cohort study of 18,425 US men free of diabetes, arthritis, and renal failure in the Health Professionals Follow-up Study (HPFS). In 2002, RLS was assessed using a set of standardized questions. Deaths were identified from state vital statistics records, the National Death Index, family reports, and the postal system. RESULTS: During 8 years of follow-up (2002-2010), we documented 2,765 deaths. In an age-adjusted model, RLS was associated with a 39% increased risk of mortality (hazard ratio [HR] = 1.39; 95% confidence interval [CI] 1.19-1.62; p < 0.0001). The association between RLS and mortality was slightly attenuated after further adjustment for body mass index, lifestyle factors, chronic conditions, sleep duration, and other sleep-related disorders (adjusted HR = 1.30; 95% CI 1.11-1.52; p = 0.003). When we further excluded those with major chronic conditions (e.g., cancer, high blood pressure, cardiovascular disease, and other comorbidities), the adjusted HR was 1.92 (95% CI 1.03-3.56; p = 0.04). The interactions between RLS and other risk factors (older age, overweight, short sleep duration, smoking, low physical activity, and unhealthy diet) in relation to total mortality risk were not significant (p for interaction >0.2 for all). CONCLUSION: We observed that men with RLS had a higher overall mortality and this association was independent of known risk factors. The increased mortality in RLS was more frequently associated with respiratory disease, endocrine disease, nutritional/metabolic disease, and immunologic disorders. Future research exploring the pathophysiologic relationship between these disorders and RLS is warranted.
  Neurology 06/2013;
• Article: Imaging new lesions: Enhancing our understanding of multiple sclerosis pathogenesis.

  Elizabeth Fisher, Daniel S Reich
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  ABSTRACT: Since 1981, when multiple sclerosis (MS) lesions were first visualized in vivo using MRI, our understanding of MS disease processes has expanded dramatically. Serial postcontrast imaging shows that MS inflammatory activity is much more frequent than clinical relapses(1) and that lesion evolution can take different paths.(2) In clinical trials, reduction of new lesion formation predicts clinical efficacy of disease-modifying drugs.(3) Despite these advances, key questions remain unanswered: What initiates development of an MS lesion? Which lesions represent severe, irreversible tissue damage, and which are likely to remyelinate? What is the most sensitive way to detect new lesions?
  Neurology 06/2013;
• Article: Meeting the challenges of stroke in india.

  Man Mohan Mehndiratta, Aneesh B Singhal, Seemant Chaturvedi, M R Sivakumar, Majaz Moonis
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  ABSTRACT: Worldwide, cerebrovascular diseases are responsible for 6.15 million deaths (10.8% of all deaths)(1) and are the second most common cause of mortality; 87% of stroke deaths occur in low or middle income countries.(2) With the world's second largest population, India is witnessing several adverse trends for the cardiovascular health of its population, including a rapid rise in the proportion of patients with diabetes and dyslipidemia, and the relative lack of exercise among the general population. India has the world's largest population of patients with diabetes, with over 62 million people with diabetes in 2011.(3) At the current time, the population in India is projected to have over 1 million strokes per year. This figure will surely rise in the coming decades due to longer life expectancy and the downstream influence of risk factors such as diabetes.
  Neurology 06/2013; 80(24):2246-7.
• Article: Neurology in a globalizing world: World Congress of Neurology, Vienna, 2013.

  Vladimir Hachinski
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  ABSTRACT: The World Congress of Neurology (figure 1) theme "Neurology in a Globalizing World" acknowledges that science and increasingly medicine and neurology are becoming globalized. The best way to manage change is to shape it. It is becoming increasingly clear that brain diseases, particularly stroke and dementia, are projected to rise at a rate that could overwhelm our clinics and hospitals. Hence a new emphasis on prevention and the need to work across disciplines beyond our traditional roles. Neurologists are the guardians of the brain and need to take the lead role in advancing new approaches in stemming the tide of neurologic diseases.
  Neurology 06/2013; 80(24):2248-9.
• Article: Unmasking a subarachnoid hemorrhage.

  Giovanni Castelnovo, Dimitri Renard
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  ABSTRACT: A 53-year-old patient presented with acute headache. CT and intra/extracranial CT angiography were normal. A traumatic lumbar puncture showed 8,500 erythrocytes/mm(3) and 24 leukocytes/mm(3). MRI showed extensive sulcal fluid-attenuated inversion recovery (FLAIR) hyperintensities suggesting subarachnoid hemorrhage (figure). However, since T2*-weighted sequences were normal and the patient was wearing a face mask (for a possible meningeal infection), a radiologic artifact was suspected. Immediately after, MRI without face mask showed absence of FLAIR abnormalities, confirming the suspected susceptibility artifact probably caused by the metal part of the face mask.
  Neurology 06/2013; 80(24):2274.
• Article: Mystery Case: Frontal meningoencephalocele causing recurrent bacterial meningitis.

  Tarun Singhal, Nagagopal Venna, Dragos A Nita
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  ABSTRACT: A 34-year-old woman presented initially with meningococcal meningitis and with Streptococcus mitis meningitis 6 months later. A right cribriform plate area meningoencephalocele was discovered on MRI at the second episode. In retrospect, this abnormality was present on initial MRI (figure). The patient recalled intermittent watery rhinorrhea for 1 year preceding the first meningitis episode, but without head trauma. The anterior cranial fossa defect was repaired, without recurrence of rhinorrhea or meningitis in 2-year follow-up.
  Neurology 06/2013; 80(24):e250.
• Article: Is increased blinking a form of blepharospasm?

  Antonella Conte, Giovanni Defazio, Gina Ferrazzano, Mark Hallett, Antonella Macerollo, Giovanni Fabbrini, Alfredo Berardelli
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  ABSTRACT: The aim of this study was to investigate whether increased blink rate (BR) is part of the clinical spectrum of primary blepharospasm (BSP). We enrolled 40 patients (16 patients with an increased BR but without typical orbicularis oculi [OO] spasms, and 24 patients with typical involuntary OO spasms) and 18 healthy subjects. The BR, blink reflex recovery cycle, and somatosensory temporal discrimination threshold (STDT) were tested in patients and controls. Patients who had typical OO spasms had an altered R2 recovery cycle whereas those who had an increased BR alone had a normal blink reflex recovery cycle. STDT values were higher in patients than in healthy subjects and no difference was found in the STDT abnormalities in the 2 groups of patients. Our study shows that, despite the similar STDT abnormalities, the different changes in the R2 recovery cycle in patients with BSP and those with increased BR alone suggest that these disorders arise from different pathologic mechanisms.
  Neurology 06/2013; 80(24):2236-41.
• Article: Teaching Video NeuroImages: Trapezius myotonia percussion sign in myotonic dystrophy type 2.

  Nicholas E Johnson, Chad R Heatwole
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  ABSTRACT: Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder with proximal weakness, muscle pain, and early-onset cataracts.(1) In comparison with myotonic dystrophy type 1 (DM1), myotonia is less symptomatic, more proximal, and harder to detect during clinical and electrodiagnostic testing.(2) Here we document the presence of trapezius myotonia in patients with DM2 (video on the Neurology® Web site at www.neurology.org). In our experience, similar proximal percussion does not produce as marked a response in DM1 or nondystrophic myotonic disorders. This sign demonstrates a mechanism to test for proximal myotonia, and in at-risk patients, may be suggestive of an underlying diagnosis of DM2.
  Neurology 06/2013; 80(24):e251.