Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.
Neurol Sci
; 24(3): 166-7, 2003 Oct.
Article
en En
| MEDLINE
| ID: mdl-14598069
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).
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ataxia
/
Enfermedades de los Ganglios Basales
/
Salud de la Familia
/
Ataxias Espinocerebelosas
/
Demencia
/
Epilepsia
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Neurol Sci
Asunto de la revista:
NEUROLOGIA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Italia