{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T09:41:49Z","timestamp":1791106909151,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,20]],"date-time":"2006-07-20T00:00:00Z","timestamp":1153353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:p>Autosomal recessive spastic ataxia of Charlevoix\u2010Saguenay (ARSACS) was originally found among the inhabitants of the Charlevoix\u2010Saguenay region of Quebec, Canada. This disease is characterized by early\u2010onset ataxia, spasticity, peripheral neuropathy, finger and foot deformities, and hypermyelination of the retinal nerve fibers. The mentality of the patients is usually intact. The principal neuropathology comprises atrophy of the upper vermis and the loss of Purkinje cells in the cerebellum. Although the lateral corticospinal tracts are degenerated, the precentral gyrus, dentate nucleus, and inferior olivary nucleus are intact. Recently, the gene responsible for ARSACS was determined to encode the sacsin protein in the Quebec patients. In 2004, we first reported a Japanese family with a<jats:italic>SACS<\/jats:italic>mutation. So far, we have identified the<jats:italic>SACS<\/jats:italic>mutations in a total of five Japanese families with ARSACS and analyzed the clinical features of eight patients. Interestingly, we found some atypical clinical features in the Japanese patients: a slightly later onset than that of the Quebec patients, an absence of myelinated retinal fibers, intellectual impairment, and a lack of spasticity. To date, there have been descriptions of non\u2010Quebec patients with<jats:italic>SACS<\/jats:italic>mutations in Japan, Italy, Tunisia, and Turkey. Hereafter, as more<jats:italic>SACS<\/jats:italic>mutations are identified, the clinical spectrum of the \u201csacsinopathies\u201d could expand.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2006.00664.x","type":"journal-article","created":{"date-parts":[[2006,7,20]],"date-time":"2006-07-20T09:22:17Z","timestamp":1153387337000},"page":"368-375","source":"Crossref","is-referenced-by-count":57,"title":["Autosomal recessive spastic ataxia of Charlevoix\u2010Saguenay"],"prefix":"10.1111","volume":"26","author":[{"given":"Yoshihisa","family":"Takiyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,20]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100024793"},{"key":"e_1_2_7_3_2","first-page":"451","volume-title":"Handbook of Clinical Neurology 16: Hereditary Neuropathies and Spinocerebellar Degenerations","author":"Bouchard J\u2010P","year":"1991"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00055-8"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370100103"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330980102"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/302274"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.62.1.100"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000104491.66816.77"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.7.982"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0179-y"},{"key":"e_1_2_7_13_2","first-page":"585","article-title":"L\u2019ataxie spastique autosomique r\u00e9cessive: \u00e9tude clinique, neurophysiologique, ophthalmologique et IRM de deux cas familiaux [Abstract]","volume":"149","author":"Chaigne D","year":"1993","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_7_14_2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.33588\/rn.3101.2000101","article-title":"Charlevoix\u2010Saguenay type recessive spastic ataxia. 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