Background and purpose:  SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features. Methods:  Three affected members from a three-generation family segregating an autosomal dominant cerebellar ataxia underwent clinical examination and genetic tests for hereditary ataxia. Results:  All affected members present with cognitive impairment and two of them with mild intermittent involuntary movements in association with the clinical hallmarks of SCA15 (gait ataxia, balance impairment, and dysarthria). Genetic tests detected a large deletion spanning ITPR1 and SUMF1 genes in affected members. Conclusion:  Our findings help enlarging the clinical spectrum of SCA15.

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.

DI GREGORIO, ELEONORA;BRUSCO, Alfredo;
2011

Abstract

Background and purpose:  SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features. Methods:  Three affected members from a three-generation family segregating an autosomal dominant cerebellar ataxia underwent clinical examination and genetic tests for hereditary ataxia. Results:  All affected members present with cognitive impairment and two of them with mild intermittent involuntary movements in association with the clinical hallmarks of SCA15 (gait ataxia, balance impairment, and dysarthria). Genetic tests detected a large deletion spanning ITPR1 and SUMF1 genes in affected members. Conclusion:  Our findings help enlarging the clinical spectrum of SCA15.
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http://dx.doi.org/10.1111/j.1468-1331.2011.03366.x
http://onlinelibrary.wiley.com/doi/10.1111/j.1468-1331.2011.03366.x/pdf
ataxia; cognitive impairment; involuntary movements; ITPR1; spinocerebellar ataxia type 15; SUMF1
Castrioto A; Prontera P; Di Gregorio E; Rossi V; Parnetti L; Rossi A; Donti E; Brusco A; Calabresi P; Tambasco N
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/90782
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