{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T06:57:38Z","timestamp":1792047458066,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,3,13]],"date-time":"2007-03-13T00:00:00Z","timestamp":1173744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2007,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant spinocerebellar ataxias (AD\u2010SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5\u2032\u2010untranslated region of the <jats:italic>puratrophin\u20101<\/jats:italic> gene was found to be associated with one type of AD\u2010SCA linked to chromosome 16q (16q\u2010SCA). To obtain further insight into the contribution of the C\u2010to\u2010T substitution in the <jats:italic>puratrophin\u20101<\/jats:italic> gene to the clinical and genetic characteristics of patients with 16q\u2010SCA, we analyzed 686 families with 719 individuals diagnosed with progressive ataxia. We found C\u2010to\u2010T substitution in the <jats:italic>puratrophin\u20101<\/jats:italic> gene in 57 unrelated families with 65 affected individuals. The mean age at onset in the patients with 16q\u2010SCA was 59.1 (range, 46\u201377). 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\u2010SCA subtype, considering the effects of age at onset. In the 686 AD\u2010SCA families, SCA6 and Machado\u2010Joseph disease\/SCA3 are frequent subtypes, followed by dentatorubral\u2010pallidoluysian atrophy and 16q\u2010SCA. 16q\u2010SCA is not a rare subtype of Japanese AD\u2010SCA, particularly in patients with ages at onset over 60. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21443","type":"journal-article","created":{"date-parts":[[2007,3,13]],"date-time":"2007-03-13T15:05:04Z","timestamp":1173798304000},"page":"857-862","source":"Crossref","is-referenced-by-count":29,"title":["Clinical and genetic characterizations of 16q\u2010linked autosomal dominant spinocerebellar ataxia (AD\u2010SCA) and frequency analysis of AD\u2010SCA in the Japanese 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