A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline
| Autor: | Castrioto, A, Prontera, P, DI GREGORIO, Eleonora, Rossi, V, Parnetti, L, Rossi, A, Donti, E, Brusco, Alfredo, Calabresi, P, Tambasco, N. |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Gait Ataxia
Male ITPR1 Movement Disorders Dysarthria ataxia SUMF1 Pedigree spinocerebellar ataxia type 15 involuntary movements Humans Inositol 1 4 5-Trisphosphate Receptors Spinocerebellar Ataxias Female Genetic Predisposition to Disease Oxidoreductases Acting on Sulfur Group Donors Sulfatases Cognition Disorders cognitive impairment Aged Genes Dominant |
| Popis: | SCA15 is a recently identified spinocerebellar ataxia with pure cerebellar involvement. Here, we report a novel SCA15 Italian family with atypical clinical features.Three affected members from a three-generation family segregating an autosomal dominant cerebellar ataxia underwent clinical examination and genetic tests for hereditary ataxia. 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.Our findings help enlarging the clinical spectrum of SCA15. |
| Databáze: | OpenAIRE |
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