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 journalArticle

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Abstract

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
Volume61
Issue number8
DOIs
Publication statusPublished - Aug 2004

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TATA-Box Binding Protein
Behavioral Symptoms
Ataxia
Dementia
Gliosis
Mutation
Mediodorsal Thalamic Nucleus
Intranuclear Inclusion Bodies
Cerebellar Ataxia
Caudate Nucleus
Purkinje Cells
Age of Onset
Genes
Atrophy
Molecular Biology
Alzheimer Disease
Antibodies
Spinocerebellar Ataxia 17
Rigidity
Protein

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bruni, A. C., Takahashi-Fujigasaki, J., Maltecca, F., Foncin, J. F., Servadio, A., Casari, G., ... Duyckaerts, C. (2004). Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Archives of Neurology, 61(8), 1314-1320. https://doi.org/10.1001/archneur.61.8.1314

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. / Bruni, Amalia C.; Takahashi-Fujigasaki, Junko; Maltecca, Francesca; Foncin, Jean Francois; Servadio, Antonio; Casari, Giorgio; D'Adamo, Pio; Maletta, Raffaele; Curcio, Sabrina A M; De Michele, Giuseppe; Filla, Alessandro; El Hachimi, Khalid H.; Duyckaerts, Charles.

In: Archives of Neurology, Vol. 61, No. 8, 08.2004, p. 1314-1320.

Research output: Contribution to journalArticle

Bruni, AC, Takahashi-Fujigasaki, J, Maltecca, F, Foncin, JF, Servadio, A, Casari, G, D'Adamo, P, Maletta, R, Curcio, SAM, De Michele, G, Filla, A, El Hachimi, KH & Duyckaerts, C 2004, 'Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation', Archives of Neurology, vol. 61, no. 8, pp. 1314-1320. https://doi.org/10.1001/archneur.61.8.1314
Bruni, Amalia C. ; Takahashi-Fujigasaki, Junko ; Maltecca, Francesca ; Foncin, Jean Francois ; Servadio, Antonio ; Casari, Giorgio ; D'Adamo, Pio ; Maletta, Raffaele ; Curcio, Sabrina A M ; De Michele, Giuseppe ; Filla, Alessandro ; El Hachimi, Khalid H. ; Duyckaerts, Charles. / Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. In: Archives of Neurology. 2004 ; Vol. 61, No. 8. pp. 1314-1320.
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AU - Foncin, Jean Francois

AU - Servadio, Antonio

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AU - Maletta, Raffaele

AU - Curcio, Sabrina A M

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