The frontal assessment battery (FAB) is a bedside cognitive scale designed to measure executive functions. Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive dysfunction. The aim of this study was to check the validity of the FAB for the evaluation of cognitive impairment in patients with HD. Forty-one patients diagnosed with HD and 53 healthy controls matched by education, sex and age were evaluated with a validated Brazilian version of the UHDRS, the VFT, the SDMT, the SIT, the MMSE, and the FAB. The diagnosis of HD was made by DNA analysis. FAB scores were lower in patients than in the controls (p < 0.001) and had significant correlations with the VFT (r = 0.79; p < 0.05), the SDMT (r = 0.80; p < 0.05), the SIT (r = 0.72; p < 0.05), the MMSE (r = 0.83; p < 0.05), the FCS (r = 0.79; p < 0.05) and the motor section of the UHDRS (r = -0.80; p < 0.05). The FAB differentiated between HD patients in the initial and later stages of the disease. The one-year longitudinal evaluation revealed a global trend toward a worsening in the second score of the FAB. The results demonstrate that the FAB presents good internal consistency and also convergent and discriminative validity; therefore it is a useful scale to assess executive functions and to evaluate cognitive impairment in patients with HD.
A 19-year-old man presented with a 3-month history of excessive grinning. Examination revealed unrestrained grinning and mild symmetric parkinsonism. Wilson disease was suspected and confirmed by the presence of Kayser-Fleischer ring (figure), suggestive brain MRI (figure), low ceruloplasmin, and high urinary copper levels. Wilson disease is a disorder of copper metabolism characterized by hepatic impairment and movement disorders. Typical facial manifestations, although not pathognomonic, include excessive grinning, in which the patient grins to trivial stimuli, 1 as demonstrated in this report; sustained open-mouth smile, when a par-kinsonian face is associated with a dystonic dropped jaw (sometimes referred to as "vacuous smile") 2 ; and fixed forced smile, when facial dystonia produces a sustained spasm of risorius and zygomaticus muscles (also referred to as "risus sardonicus").
BACKGROUND AND OBJECTIVES:Brain magnetic resonance is a major exam to evaluate thunderclap headache, after excluding subarachnoid hemorrhage. This study aimed at reporting a case of brainstem cavernous angioma (cavernoma) where clinical presentation and computerized tomography have suggested intraventricular hemorrhage. CASE REPORT: Female patient, 55 years, was referred to the hospital with a history of new headache 10 days ago. Pain onset was sudden, pressure-type, severe, located in the occipital region with irradiation throughout the head, followed by severe photophobia, nauseas, diplopia and blurred vision. Neurological evaluation has revealed anisocoria, complete ophthalmoplegia and right eyelid ptosis. Cranial CT has shown blood in the third ventricle. Conventional brain arteriography has not shown aneurysm, arteriovenous malformation or venous sinus thrombosis. At lumbar puncture, an opening water pressure of 45cm was found and liquor analysis was normal. Brain resonance has shown oval lesion (1.0x1.0x0.6cm) of exophytic aspect in the interpeduncular cistern and third ventricle, compatible with brainstem cavernoma. CONCLUSION: In this case, magnetic resonance was essential for the diagnosis, since routine exams (brain tomography, liquor puncture and arteriography) could not define it. Further studies are needed to explain how magnetic resonance impacts investigation.
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