{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:02:42Z","timestamp":1790197362006,"version":"4.1.0"},"reference-count":62,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T00:00:00Z","timestamp":1609804800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167120002772_as1\"><jats:title>Objective:<\/jats:title><jats:p>To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec and to evaluate the proportion of associated mutations in identified genes.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167120002772_as2\"><jats:title>Methods:<\/jats:title><jats:p>We conducted a descriptive cross-sectional study of patients who met clinical criteria for the diagnosis of HA (<jats:italic>n<\/jats:italic> = 241) and HSP (<jats:italic>n<\/jats:italic> = 115) in the East of the Quebec province between January 2007 and July 2019. The primary outcome was the prevalence per 100,000 persons with a 95% confidence interval (CI). The secondary outcome was the frequency of mutations identified by targeted next-generation sequencing (NGS) approach. Minimum carrier frequency for identified variants was calculated based on allele frequency values and the Hardy\u2013Weinberg (HW) equation.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167120002772_as3\"><jats:title>Results:<\/jats:title><jats:p>The minimum prevalence of HA in Eastern Quebec was estimated at 6.47\/100 000 [95% CI; 6.44\u20136.51]; divided into 3.73\/100 000 for autosomal recessive (AR) ataxias and 2.67\/100 000 for autosomal dominant (AD) ataxias. The minimum prevalence of HSP was 4.17\/100 000 [95% CI; 4.14\u20134.2]; with 2.05\/100 000 for AD-HSP and 2.12\/100 000 for AR-HSP. In total, 52.4% of patients had a confirmed genetic diagnosis. AR cerebellar ataxia type 1 (2.67\/100 000) and AD spastic paraplegia SPG4 (1.18\/100 000) were the most prevalent disorders identified. Mutations were identified in 23 genes and molecular alterations in 7 trinucleotides repeats expansion; the most common mutations were c.15705\u201312 A &gt; G in <jats:italic>SYNE1<\/jats:italic> and c.1529C &gt; T (p.A510V) in <jats:italic>SPG7<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167120002772_as4\"><jats:title>Conclusions:<\/jats:title><jats:p>We described the minimum prevalence of genetically defined adult HA and HSP in Eastern Quebec. This study provides a framework for international comparisons and service planning.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2020.277","type":"journal-article","created":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T22:04:31Z","timestamp":1609884271000},"page":"655-665","source":"Crossref","is-referenced-by-count":12,"title":["Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec"],"prefix":"10.1017","volume":"48","author":[{"given":"Ikhlass","family":"Haj Salem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Beaudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Stumpf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad A.","family":"Estiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Olivier","family":"C\u00f4t\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Brunet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Luc","family":"Gamache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy A.","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Mourabit-Amari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziv","family":"Gan-Or","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7270-6115","authenticated-orcid":false,"given":"Nicolas","family":"Dupr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2021,1,5]]},"reference":[{"key":"S0317167120002772_ref5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.2.855"},{"key":"S0317167120002772_ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-017-0885-2"},{"key":"S0317167120002772_ref41","first-page":"1296","article-title":"SYNE1 mutations in autosomal recessive cerebellar ataxia","volume":"70","author":"Noreau","year":"2013","journal-title":"JAMA Neurol."},{"key":"S0317167120002772_ref42","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20408"},{"key":"S0317167120002772_ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.014662"},{"key":"S0317167120002772_ref23","first-page":"A35","article-title":"Recessive ataxia of the Beauce, a new form of hereditary ataxia of pure cerebellar type","volume":"58","author":"Dupr\u00e9","year":"2002","journal-title":"Neurol."},{"key":"S0317167120002772_ref43","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2008.12.004"},{"key":"S0317167120002772_ref6","doi-asserted-by":"publisher","DOI":"10.1007\/BF00867594"},{"key":"S0317167120002772_ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21143"},{"key":"S0317167120002772_ref60","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp073"},{"key":"S0317167120002772_ref27","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1956"},{"key":"S0317167120002772_ref36","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21114"},{"key":"S0317167120002772_ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3"},{"key":"S0317167120002772_ref56","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2012.08.036"},{"key":"S0317167120002772_ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-017-0532-6"},{"key":"S0317167120002772_ref59","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0366-9"},{"key":"S0317167120002772_ref14","first-page":"527","article-title":"Epidemiology of cerebellar ataxia in Al-Kharga district-New Valley (Egypt). 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