{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T02:55:47Z","timestamp":1787972147386,"version":"build-2784847793"},"reference-count":5,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"abstract":"<jats:p>Autosomal dominant cerebellar ataxia (ADCA) includes heterogeneous neurodegenerative diseases with or without various neurological signs and symptoms. Ishikawa <jats:italic>et al<\/jats:italic> reported a new type of ADCA, named chromosome16q22.1 linked ADCA (16q-ADCA), attributed to a heterozygous C\u2192T substitution in the 5\u2032 non-coding region of <jats:italic>puratrophin-1<\/jats:italic> gene. We searched for this mutation in168 patients from 129 families with ADCA and found it in six patients. The patients generally showed late onset pure cerebellar ataxia similar to previous reports but two had mild axonal neuropathy and orthostatic hypotension (OH). Our results suggest that 16q-ADCA shows a broader clinical presentation than previously thought.<\/jats:p>","DOI":"10.1136\/bcr.08.2008.0707","type":"journal-article","created":{"date-parts":[[2009,2,2]],"date-time":"2009-02-02T06:49:47Z","timestamp":1233557387000},"page":"bcr0820080707","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia"],"prefix":"10.1136","volume":"2009","author":[{"given":"Yoshiko","family":"Furiya","sequence":"first","affiliation":[{"name":"Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makito","family":"Hirano","sequence":"additional","affiliation":[{"name":"Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masami","family":"Nomura","sequence":"additional","affiliation":[{"name":"Kainan Hospital Aichi Prefectural Welfare Federation of Agricultural Cooperatives, Neurology, 396 Oaza-maegasushinden, Aza-minamihonda, Yatomi-cho, Kaifu-gun, Aichi, 4988502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiro","family":"Asai","sequence":"additional","affiliation":[{"name":"Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Kiriyama","sequence":"additional","affiliation":[{"name":"Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Ueno","sequence":"additional","affiliation":[{"name":"Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,8,9]]},"reference":[{"key":"2025082706494782000_2009.aug09_1.bcr0820080707.1","doi-asserted-by":"publisher","DOI":"10.1086\/432518"},{"key":"2025082706494782000_2009.aug09_1.bcr0820080707.2","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1212\/01.wnl.0000173065.75680.e2","article-title":"A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III","volume":"65","author":"Owada","year":"2005","journal-title":"Neurology"},{"key":"2025082706494782000_2009.aug09_1.bcr0820080707.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00231-6"},{"key":"2025082706494782000_2009.aug09_1.bcr0820080707.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.2.257"},{"key":"2025082706494782000_2009.aug09_1.bcr0820080707.5","doi-asserted-by":"publisher","DOI":"10.1080\/14734220510007914"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.08.2008.0707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T13:49:51Z","timestamp":1756302591000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.08.2008.0707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,9]]},"references-count":5,"alternative-id":["10.1136\/bcr.08.2008.0707"],"URL":"https:\/\/doi.org\/10.1136\/bcr.08.2008.0707","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,9]]}}}