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2. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

Author

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
ATAXIA, DEMENTIA, EPILEPSY, FRIEDREICH'S ataxia, DEGLUTITION disorders, SPASMS, CARRIER proteins, BASAL ganglia diseases, CEREBELLUM, COMPARATIVE studies, DNA, ELECTROENCEPHALOGRAPHY, FAMILY health, MAGNETIC resonance imaging, RESEARCH methodology, MEDICAL cooperation, SPINOCEREBELLAR ataxia, MOLECULAR biology, POLYMERASE chain reaction, PROTEINS, RESEARCH, RNA, PHENOTYPES, EVALUATION research, REVERSE transcriptase polymerase chain reaction, DISEASE complications, DIAGNOSIS
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). [ABSTRACT FROM AUTHOR]

Published
2003
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