论文信息 - Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17

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

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).

[1] S. Subramony,et al. Autosomal dominant spinocerebellar ataxias ad infinitum? , 2001, Neurology.

[2] G. De Michele,et al. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy , 2002, Neurology.

[3] I. Kanazawa,et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. , 2001, Human molecular genetics.

[4] S. Tsuji,et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. , 2002, Archives of neurology.

[5] C. Broeckhoven,et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. , 2001, Brain : a journal of neurology.

[6] P. Vieregge,et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia , 2001, European Journal of Human Genetics.