RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration
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چکیده
منابع مشابه
RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by loss of motor coordination and retinal degeneration with no current therapies in the clinic. The causative mutation is an expanded CAG repeat in the ataxin-7 gene whose mutant protein product causes cerebellar and brainstem degeneration and retinal cone-rod dystrophy. Here, we reduced the ex...
متن کاملSpinocerebellar ataxia type 7 without retinal degeneration: a case report.
A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat ...
متن کاملSpinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability
Autosomal dominant cerebellar ataxia (ADCA) was classified into Type I, Type II, and Type III, based on the clinical phenotypes by Harding. ADCA Type I presents with both cerebellar and noncerebellar signs and includes SCA1–SCA4, SCA8, SCA10, SCA12-SCA23, SCA25, SCA27, SCA28, and SCA32–SCA36. ADCA Type II consists of syndromes in association with pigmentary retinopathies and includes SCA7. ADCA...
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Autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and molecular heterogeneous group of neurodegenerative disorders caused by expansion of an unstable CAG (polyglutamine) trinucleotide repeat. The cloning of the genes responsible and the characterization of the mutation now permit a reliable diagnosis. A wide spectrum of clinical phenotypes has been observed within families with t...
متن کاملAtaxia Severity Correlates with White Matter Degeneration in Spinocerebellar Ataxia Type 7.
BACKGROUND AND PURPOSE There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. MATERIALS AND METHODS Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia ...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2014
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0095362