1. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.
- Author
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De Michele G, Maltecca F, Carella M, Volpe G, Orio M, De Falco A, Gombia S, Servadio A, Casari G, Filla A, and Bruni A
- Subjects
- Adolescent, Adult, Ataxia genetics, Basal Ganglia Diseases genetics, Cerebellum pathology, Cerebellum physiopathology, DNA Repeat Expansion, Dementia genetics, Electroencephalography, Epilepsy genetics, Female, Humans, Italy, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Biology, Phenotype, RNA, Messenger biosynthesis, Reverse Transcriptase Polymerase Chain Reaction, Spinocerebellar Ataxias diagnosis, Spinocerebellar Ataxias genetics, TATA-Box Binding Protein genetics, Ataxia etiology, Basal Ganglia Diseases etiology, Dementia etiology, Epilepsy etiology, Family Health, Spinocerebellar Ataxias complications
- Abstract
We observed two families with a dominantly inherited complex neurological syndrome with onset in adulthood. Family F included 9 affected in four generations. One patient showed prominent anticipation of onset age. Onset was with cerebellar signs followed by dementia, psychiatric symptoms, seizures, and extrapyramidal features. Family M included 14 affected individuals in five generations. Presenting symptoms were either psychiatric and cognitive impairment or a cerebellar syndrome. Extrapyramidal features, dysphagia, incontinence, seizures, and myoclonus may occur. In both families magnetic resonance imaging showed marked atrophy of the brain and cerebellum. Molecular analyses demonstrated an expanded CAG/CAA repeat in the in the TATA box-binding protein (TBP) gene (SCA17).
- Published
- 2003
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