Reversibility of neuropathology in Tay–Sachs-related diseases
نویسندگان
چکیده
منابع مشابه
Neuropathology of mitochondrial diseases.
The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism. Muscle can be the only affected tissue or involved ...
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive development of intention tremor, ataxia, parkinsonism and neuropsychological problems. The disease is thought to be caused by a toxic RNA gain-of-funct...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2013
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddt459