ABSTRACT
ABSTRACTThe authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG.Results: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients.Conclusion: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.
RESUMOOs autores apresentam uma série de casos incluindo oito pacientes com ataxia cerebellar de início muito tardio (média de 75,5 anos de idade) apresentando ataxia de marcha, associada à atrofia cerebelar.Método: 26 pacientes adultos com diagnóstico de ataxia cerebelar de início tardio idiopática foram analisados ambulatorialmente e acompanhados regularmente ao longo de 20 anos. Destes, oito pacientes idosos foram diagnosticados como provável ataxia cerebelar início muito tardio. Os pacientes foram submetidos a um exame neurológico completo, avaliação cognitive e oftalmológica assim como ressonância magnética do cérebro e eletroneuromiografia tambem foram realizados.Resultados: 62,5% dos pacientes eram do sexo masculino, com idade média de 81,9 anos, com média de idade de início aos 75,5 anos. Ataxia cerebelar predominante de marcha foi observada em todos os pacientes, bem como, a atrofia cerebelar na ressonância magnética cerebral. Comprometimento cognitivo leve e perda visual, devido à degeneração macular, foram observados em 50% dos casos. Coréia foi encontrada em 3 pacientes.Conclusão: Acreditamos que esta condição é semelhante à descrita por Marie-Foix-Alajouanine apresentando disartria leve, associada a ataxia de marcha, disfunção cognitiva e coréia.
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Gait Ataxia/physiopathology , Spinocerebellar Degenerations/physiopathology , Age of Onset , Atrophy , Brazil , Cerebellum/pathology , Chorea/pathology , Chorea/physiopathology , Electromyography , Gait Ataxia/pathology , Magnetic Resonance Imaging , Mental Status Schedule , Cognitive Dysfunction/pathology , Cognitive Dysfunction/physiopathology , Spinocerebellar Degenerations/pathologyABSTRACT
X-linked adrenoleukodystrophy (XALD) is an inherited disorder of peroxisomal metabolism. Atypical presentations have been occasionally reported in literature. However, extrapyramidal and cerebellar manifestations are distinctly rare. We report a patient of X-linked adrenoleukodystrophy with cranial and cervical dystonia and neurological presentation resembling spinocerebellar degeneration followed by a brief review of relevant literature.
Subject(s)
Adrenoleukodystrophy/pathology , Adult , Brain Stem/pathology , Cerebellum/pathology , Humans , Magnetic Resonance Imaging , Male , Spinocerebellar Degenerations/pathologyABSTRACT
Os autores apresentam o estudo realizado em 5 membros de uma familia portadora doenca de Machado-Joseph. Sao abordados os diferentes tipos clinicos da doenca encontrados, bem como os exames complementares realizados, em particular os estudos de tomografia craniana, exames neurofisiologicos (eletromiografia, estudo de conducao nervosa, estudo de potencial evocado auditivo), biopsias de nervo periferico e de musculo estriado esqueletico, com estudo histoquimico.