Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
| العنوان: | Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population |
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| المؤلفون: | Akio Kawakami, Reiji Koide, Naoki Nakao, Akio Kimura, Yuusaku Nakmura, Tatsuro Mutoh, Osamu Onodera, Hiroko Yamamoto, Takeshi Ikeuchi, Miyuki Tsuchiya, Ko Sahashi, Hiroaki Nozaki, Masatoyo Nishizawa |
| المصدر: | Movement Disorders. 22:857-862 |
| بيانات النشر: | Wiley, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Male, Untranslated region, Ataxia, Disease, Biology, Polymorphism, Single Nucleotide, Atrophy, Gene Frequency, Japan, medicine, Guanine Nucleotide Exchange Factors, Humans, Spinocerebellar Ataxias, Age of Onset, Gene, Aged, Genes, Dominant, Genetics, Genetic heterogeneity, Chromosome Mapping, Spectrin, Chromosome, DNA, Middle Aged, medicine.disease, Neurology, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, Chromosomes, Human, Pair 16 |
| الوصف: | Autosomal dominant spinocerebellar ataxias (AD-SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5'-untranslated region of the puratrophin-1 gene was found to be associated with one type of AD-SCA linked to chromosome 16q (16q-SCA). To obtain further insight into the contribution of the C-to-T substitution in the puratrophin-1 gene to the clinical and genetic characteristics of patients with 16q-SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia. We found C-to-T substitution in the puratrophin-1 gene in 57 unrelated families with 65 affected individuals. The mean age at onset in the patients with 16q-SCA was 59.1 (range, 46-77). Ataxia is the most common initial symptom. The elderly patients over 65 occasionally showed other accompanying clinical features including abnormalities in tendon reflexes, involuntary movements, and reduced vibration sense. We also examined the frequency of the AD-SCA subtype, considering the effects of age at onset. In the 686 AD-SCA families, SCA6 and Machado-Joseph disease/SCA3 are frequent subtypes, followed by dentatorubral-pallidoluysian atrophy and 16q-SCA. 16q-SCA is not a rare subtype of Japanese AD-SCA, particularly in patients with ages at onset over 60. |
| تدمد: | 1531-8257 0885-3185 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b89433dcdf6a7d749b5d0c878181882 https://doi.org/10.1002/mds.21443 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....5b89433dcdf6a7d749b5d0c878181882 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15318257 08853185 |
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