Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation

Amalia C. Bruni, Junko Takahashi-Fujigasaki, Francesca Maltecca, Jean Francois Foncin, Antonio Servadio, Giorgio Casari, Pio D'Adamo, Raffaele Maletta, Sabrina A M Curcio, Giuseppe De Michele, Alessandro Filla, Khalid H. El Hachimi, Charles Duyckaerts

Research output: Contribution to journalArticlepeer-review


Background: Spinocerebellar ataxia type 17 is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the TATA box-binding protein gene. Ataxia is typically the first sign whereas behavioral symptoms occur later. Objective: To characterize the unusual phenotypic expression of a large spinocerebellar ataxia type 17 kindred. Design: Clinical, neuropathological, and molecular genetic characterization of a 4-generation family with 16 affected patients. Results: Behavioral symptoms and frontal impairment dominated the early stages preceding ataxia, rigidity, and dystonic movements. Neuropathological examination showed cortical, subcortical, and cerebellar atrophy. Purkinje cell loss and gliosis, pseudohypertrophic degeneration of the inferior olive, marked neuronal loss and gliosis in the caudate nucleus, and in the medial thalamic nuclei were salient features together with neuronal intranuclear inclusions stained with anti-TATA box-binding protein and antipolyglutamine antibodies. The disease was caused by a stable 52 CAG repeat expansion of the TATA box-binding protein gene, although there was apparent variability in the age of onset. Conclusion: The characteristics of this family broaden the clinical picture of spinocerebellar ataxia type 17: initial presenile dementia with behavioral symptoms should be added to ataxia, rigidity, and dystonic movements, which are more commonly encountered.

Original languageEnglish
Pages (from-to)1314-1320
Number of pages7
JournalArchives of Neurology
Issue number8
Publication statusPublished - Aug 2004

ASJC Scopus subject areas

  • Neuroscience(all)


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