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ABSTRACT: OBJECTIVE: We describe a patient with prodromal dementia with Lewy bodies (DLB) presenting with drug-induced visual hallucinations (VHs). CASE REPORT: A 78-year-old woman complained of daytime recurrent VHs characterized by seeing her face and arms covered in fur and viewing moustaches on her daughter's face. VHs started a few days after the beginning of a combination therapy with duloxetine and lorazepam and ceased within 24 h after their discontinuation. Nonamnestic mild cognitive impairment with profound visual perception deficits and very mild extrapyramidal signs, with abnormal brain DaTscan single photon emission tomography, were present. Three years later, cognitive and neurological follow-up assessments supported the diagnosis of DLB. CONCLUSION: Perturbation of cerebral serotonergic tone induced by duloxetine, associated with reduced attentional control due to benzodiazepine use, may be the physiopathological substrate of transient VHs in prodromal DLB.
General hospital psychiatry 03/2013; · 2.67 Impact Factor
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ABSTRACT: BACKGROUND: The presence of recurrent complex visual hallucinations (VHs) is a core feature of dementia with Lewy bodies (DLB). The aim of this study was to investigate which clinical and neuropsychological characteristics are associated with VHs and their predictive value over a 1 year follow-up. METHODS: 81 DLB patients, 41 with (VH+) and 36 without (VH-) VHs, and 45 patients with Alzheimer's disease (AD), were enrolled. All participants underwent extensive neuropsychological testing. Visual-spatial and perceptual abilities were evaluated with the Visual and Object Space Perception (VOSP) battery. Fluctuations in attention, rapid eye movement sleep behaviour disorder (RBD) symptoms, extrapyramidal signs and behavioural disturbances were studied with dedicated clinical scales. RESULTS: The presence of VHs was associated with older age and later disease onset, but not with disease duration or with fluctuations, RBD or parkinsonism severity. Cognitive correlates of VHs were deficits in visual attention (digit cancellation: p<0.005) and executive functions (clock drawing: p<0.05; digit span forward: p<0.05) on a background of a slightly worse global cognitive performance (Mini-Mental State Examination: p=0.05). Visual-perceptual and visual-spatial deficits were significantly worse in DLB than in AD patients (VOSP subtests scores 1, 6, 7 and 8) but were not different in DLB VH+ and VH-, except for subtest 6. Poor performance in the visual attention task was an independent predictor of VHs. DISCUSSION: Impairment of visual-spatial and perceptual abilities in DLB represents a disease related cognitive signature, independent of the presence of VHs, for which it may represent a predisposing condition. Visual attention, instead, is the main cognitive determinant for the genesis of VHs.
Journal of neurology, neurosurgery, and psychiatry 12/2012; · 4.87 Impact Factor
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ABSTRACT: Rapidly progressive dementia (RPD) is a rare presentation of different neurological disorders characterized by cognitive impairment leading to loss of functional independence within 24 months or less. The increasing recognition of treatable non-prion causes of RPD has made the differential diagnosis with sporadic Creutzfeldt-Jakob disease (sCJD) of crucial importance. We therefore assessed the frequency of different etiologies of RPD and evaluated the accuracy of newly proposed diagnostic criteria for sCJD. Clinical records of patients with RPD referred to Memory Clinic between 2007 and 2012 were retrospectively analyzed. The accuracy of diagnostic criteria for sCJD was evaluated by: a) MRI images in DWI and FLAIR sequences; and (b) CSF 14-3-3 protein. In addition, CSF total tau protein level was also assessed. Final diagnosis was obtained after a 1-year follow-up or after autopsy. Among 37 patients with RPD, the most frequent causes were non-prion diseases, either untreatable (38%) or potentially treatable (32%), thus leaving sCJD as a less frequent cause (30%). DWI images had a sensitivity of 73% and specificity of 96%, while FLAIR yielded a very low sensitivity (40%). CSF 14-3-3 protein had a sensitivity of 100%, but a very low specificity (43%). The strongest independent predictor of sCJD diagnosis was the CSF tau level (p = 0.002) (91% sensitivity, 83% specificity). Treatable causes of RPD are as frequent as sCJD and a rapid differential diagnosis is mandatory. We suggest that DWI images and CSF analysis combining 14-3-3 and total tau protein determination hold the best informative diagnostic values.
Journal of Alzheimer's disease: JAD 12/2012; · 3.74 Impact Factor
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ABSTRACT: Cholesterol metabolism alteration is a hot topic in the field of Alzheimer's disease (AD). However, data on plasma lipoproteins cholesterol distribution and oxidation in AD and their possible genetic determinants are lacking. The paraoxonase-1 (PON1) gene -107C/T promoter polymorphisms have been found associated with AD. One of the fundamental functions of PON1 enzyme is the inhibition of low-density lipoproteins (LDL) oxidation. We therefore evaluated plasma lipoprotein profile and LDL density and oxidation in late-onset AD patients and healthy elderly subjects, without neuroimaging evidence of cerebrovascular lesions and not on lipid-lowering treatment, and their interaction with PON1 -107C/T and apolipoprotein E (APOE) genotypes. Mean plasma total cholesterol and LDL levels were higher in AD than controls (p < 0.05). Lipoproteins cholesterol distribution shifted toward a greater prevalence of smaller, denser LDL (sd-LDL, p < 0.05) only in AD patients with PON1 -107TT genotype, who also showed increased plasma levels of oxidized LDL (ox-LDL, p = 0.02). A significant association was observed between sd-LDL and ox-LDL levels (p < 005) in AD patients. APOE genotype did not modulate lipoprotein distribution. Increased levels of sd-LDL and ox-LDL particles in the AD PON1 TT patients could be explained by the combined effect of an AD-related pro-oxidant milieu and an ineffective PON1 gene polymorphism-related antioxidant capacity. The functional correlate of the association between PON1 -107C/T polymorphism and AD may be the abnormal modulation of LDL oxidation. Ox-LDL may amplify the processes of endothelial injury promoted by vascular amyloid deposition, which represents one of the potential pathways explaining the cross-road between vascular and neurodegenerative pathomechanisms in AD.
Journal of Alzheimer's disease: JAD 12/2012; · 3.74 Impact Factor
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Acta Neurochirurgica 10/2012; · 1.52 Impact Factor
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Parkinsonism & Related Disorders 08/2012; · 3.80 Impact Factor
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ABSTRACT: Mutations in the Presenilin 2 gene (PSEN2) represent the less frequent genetic cause of familial Alzheimer's disease (FAD). Only eight PSEN2 mutations, reported in approximately 27 families, satisfied strict criteria of pathogenicity. We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. Brain SPECT study showed an early hypoperfusion of the frontal cortex. We confirmed the pathogenicity of PSEN2 p.Met239Ile mutation and its heterogeneous phenotypic expression. The modulating effect of the Apolipoprotein E and Prion Protein gene polymorphisms on the phenotypic variability was not confirmed.
Journal of Alzheimer's disease: JAD 04/2012; 31(1):7-11. · 3.74 Impact Factor
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ABSTRACT: The development of focal hand dystonia after a traumatic injury of the central or the peripheral nervous system is a rare condition with multifactorial predisposing factors. We report on a patient who developed focal dystonia of the left hand after a cervical whiplash injury. Magnetic resonance imaging did not show cerebral or spinal lesions, whereas a brain F-FDG PET scan revealed hypometabolism of the right primary sensory-motor cortex extending to the inferior and superior parietal lobule. The patient had a history of recurrent migraine attacks. Four months before the whiplash injury, she had transient dystonic posture of the left hand during a hemiplegic migraine attack. Brain magnetic resonance imaging scan and neurovascular investigations were negative. Among the predisposing factors to the development of trauma-induced dystonia, a putative role of neuronal hyperexcitability, shared by migraine and dystonia, is discussed.
The Neurologist 01/2012; 18(1):36-8. · 1.26 Impact Factor
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ABSTRACT: Semantic dementia (SD) is a neurodegenerative disease belonging to the spectrum of frontotemporal dementia that presents with loss of memory for words and prevalent left temporal pole atrophy. Behavioral disorders, particularly obsessive-compulsive symptoms, are frequent during the course of the disease. We describe a patient presenting with late-onset typical obsessive-compulsive disorder (OCD) that lasted for 10 years as an isolated condition before developing clinical and neuroimaging features of SD. This case alerts clinicians that late-onset OCD may be a psychiatric presentation of a neurodegenerative disorder such as frontotemporal dementia and requires an accurate diagnostic work-up.
General hospital psychiatry 09/2011; 34(1):102.e1-4. · 2.67 Impact Factor
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Carla D'Ascenzo,
Diego Cecchin,
Luca Santelli,
Arianna Palmieri,
Alessandra Gaiani,
Giorgia Querin,
Valentina Cima,
Marco Volpe,
Luca Bello,
Franco Bui, Annachiara Cagnin,
Corrado Angelini,
Elena Pegoraro,
Gianni Sorarù
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ABSTRACT: Owing to the frequent observation of poverty of movements, facial hypomimia and balance impairment, amyotrophic lateral sclerosis (ALS) variant with predominance of upper motor neuron involvement (UMN-ALS) is prone to be diagnosed with Parkinsonism. A clinical assessment, including the velocity-dependent stretch response test to differentiate between pyramidal and extrapyramidal stiffness; the Unified Parkinson's Disease Rating Scale and the Berg Balance Scale to assess degree of bradykinesia and postural instability; and (123)I-FP-CIT scintigraphy evaluation to investigate the nigrostriatal circuit involvement, were carried out to characterize Parkinson-like features in UMN-ALS patients. Sixteen UMN-ALS patients were included in the study. The velocity-dependent stretch response indicated spasticity in all the muscles tested. The degree of stiffness was found to be related to bradykinesia and postural instability. Eleven patients (70%) showed a reduction in striatal (123)I-FP-CIT uptake found to be related to disease duration and patients' ages but not to scores of the functional scales. Slowness of movements and postural instability noted in our patients could be mostly attributed to spasticity. The lack of any correlation between UPDRS or BBS scores and the degree of nigrostriatal impairment on DaTSCAN seems to disprove nigrostriatal circuit involvement in these extrapyramidal-like features.
Amyotrophic Lateral Sclerosis 08/2011; 13(1):137-43. · 3.40 Impact Factor
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ABSTRACT: Hyperemesis gravidarum can impair correct absorption of an adequate amount of thiamine and can cause electrolyte imbalance. This study investigated the neurological complications in a pregnant woman with hyperemesis gravidarum. A 29-year-old pregnant woman was admitted for hyperemesis gravidarum. Besides undernutrition, a neurological examination disclosed weakness with hyporeflexia, ophthalmoparesis, multidirectional nystagmus and optic disks swelling; the patient became rapidly comatose. Brain MRI showed symmetric signal hyperintensity and swelling of periaqueductal area, hypothalamus and mammillary bodies, medial and posterior portions of the thalamus and columns of fornix, consistent with Wernicke encephalopathy (WE). Neurophysiological studies revealed an axonal sensory-motor polyneuropathy, likely due to thiamine deficiency or critical illness polyneuropathy. Sodium and potassium supplementation and parenteral thiamine were administered with improvement of consciousness state in a few days. WE evolved in Korsakoff syndrome. A repeat MRI showed a marked improvement of WE-related alterations and a new hyperintense lesion in the pons, suggestive of central pontine myelinolysis. No sign or symptom due to involvement of the pons was present.
Neurological Sciences 07/2011; 33(1):133-5. · 1.32 Impact Factor
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Parkinsonism & Related Disorders 06/2011; 17(9):708-9. · 3.80 Impact Factor
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ABSTRACT: We report on a case of a 80-year-old man who developed progressive drowsiness with headache, fever and signs of meningeal irritation 2 days after a head trauma. Suspecting an infective meningoencephalitis, the patient was treated with wide spectrum antibiotic and antiviral therapy. Brain CT scan revealed a previously unknown pituitary expansive lesion. A brain MRI study confirmed the presence of an intrasellar lesion, which presented remarkable contrast ring enhancement, and showed non-specific inflammatory tissue on the clivus, possibly responsible of the clinical features of sterile meningitis. A biopsy proven diagnosis of pituitary apoplexy was made. This case highlights MRI as an important investigation for earlier recognition of pituitary apoplexy that can present with a clinical picture resembling an infective meningoencephalitis.
Neurological Sciences 06/2011; 33(1):147-9. · 1.32 Impact Factor
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ABSTRACT: Disulfiram and γ-hydroxybutyric acid (GHB) are used to treat alcohol dependence and may both increase dopamine brain levels and modulate GABAergic transmission. We describe a patient affected by bipolar disorder (on valproate as mood-stabilizing treatment) and alcohol dependence who developed a disulfiram-induced hypomanic episode and in whom the switch from disulfiram to GHB induced recurrent convulsive seizures, not responsive to treatment with diazepam, and psychosis. Seizures and psychiatric symptoms ceased after GHB discontinuation. We outline the deregulation of the neurotransmitter systems (GABAergic and dopaminergic networks) that are involved in these drug-drug interactions and that might be responsible for both psychosis and generalized tonic-clonic seizures resistant to standard treatments.
Epilepsy & Behavior 06/2011; 21(2):203-5. · 2.34 Impact Factor
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Journal of neurology, neurosurgery, and psychiatry 05/2011; 82(5):588-90. · 4.87 Impact Factor
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Anesthesiology 01/2011; 114(1):175. · 5.36 Impact Factor
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ABSTRACT: In 2007, Schiff et al reported a patient in a minimally conscious state (MCS) who responded to deep brain stimulation (DBS), but clinicians cannot predict which patients might respond prior to the implantation of electrodes.
A patient in a MCS for 5 years participated in an ABA design alternating between repetitive transcranial magnetic stimulation (rTMS) and peripheral nerve stimulation. rTMS (condition A) involved the delivery of 10 trains of 100 stimuli at 20 Hz using a stimulator with a 70-mm figure-of-eight coil to elicit a contraction of the abductor pollicis brevis. Condition B used median nerve electrical stimulation.
After peripheral stimulation, the patient did not exhibit clinical, behavioral, or electroencephalographic (EEG) changes. The frequency of specific and meaningful behaviors increased after rTMS, along with the absolute and relative power of the EEG δ, β, and α bands.
These results suggest that rTMS may improve awareness and arousal in MCS. If these results are reproducible, rTMS may identify subgroups of MCS patients who might benefit from DBS.
Neurorehabilitation and neural repair 01/2011; 25(1):98-102. · 4.49 Impact Factor
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ABSTRACT: Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest form of human prion diseases, accounting for about 85% of all cases. Current criteria for intra vitam diagnosis include a distinct phenotype, periodic sharp and slow-wave complexes at electroencephalography (EEG), and a positive 14-3-3-protein assay in the cerebrospinal fluid (CSF). In sCJD, the disease phenotype may vary, depending upon the genotype at codon 129 of the prion protein gene (PRNP), a site of a common methionine/valine polymorphism, and two distinct conformers of the pathological prion protein. Based on the combination of these molecular determinants, six different sCJD subtypes are recognized, each with distinctive clinical and pathologic phenotypes. We analyzed CSF samples from 127 subjects with definite sCJD to assess the diagnostic value of 14-3-3 protein, total tau protein, phosphorylated(181) tau, and amyloid beta (Aβ) peptide 1-42, either alone or in combination. While the 14-3-3 assay and tau protein levels were the most sensitive indicators of sCJD, the highest sensitivity, specificity and positive predictive value were obtained when all the above markers were combined. The latter approach also allowed a reliable differential diagnosis with other neurodegenerative dementias.
International Journal of Molecular Sciences 01/2011; 12(9):6281-92. · 2.60 Impact Factor
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ABSTRACT: Although vascular dementia (VaD) represents the second most common cause of dementia after Alzheimer's disease (AD) in the elderly, and is referred as the "silent epidemic of the twenty-first century", there is still a controversy on terminology, classification and diagnostic criteria of VaD. The diagnosis of VaD resides in clinical criteria determining a cognitive impairment, the presence of cerebrovascular disease and, only in the case of post-stroke dementia or multi-infarct dementia, a temporal relationship between these. The search for a reliable biochemical tests helping in the diagnosis of VaD is so far not available. Several vascular risk factors have a role in the development of VaD and their identification and treatment are among the major aspects of management of VaD. A new line of research in this field is the study of genetic factors underlying vascular cognitive impairment which are: (1) genes predisposing to cerebrovascular disease, and (2) genes that influence brain tissue responses to cerebrovascular lesions. Evidence in favour of a coexistence of vascular and degenerative components in the pathogenesis of dementia in an elderly population comes from neuropathological and epidemiological studies. There is now a great debate whether VaD and AD are more than common coexisting unrelated pathologies and, instead, represent different results of synergistic pathological mechanisms. Preventive approaches aiming at reducing incident VaD by targeting patients at risk of cerebrovascular disease (primary prevention), or acting on patients after a stroke (secondary prevention) to prevent stroke recurrence and the progression of brain changes associated with cognitive impairment are mandatory therapeutic strategies.
Neurochemical Research 12/2010; 35(12):1933-8. · 2.24 Impact Factor
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Liver Transplantation 11/2010; 16(11):1336-7. · 3.39 Impact Factor
