{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:26:55Z","timestamp":1792682815271,"version":"4.5.0"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T00:00:00Z","timestamp":1746403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["RN127580\u2010260005"],"award-info":[{"award-number":["RN127580\u2010260005"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe clinical, radiological, and genetic features of HSP in Alberta, Canada, and evaluate genetic variability among ethnic groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients with HSP were recruited between 2012 and 2021, and enrolled in an observational study. Genetic testing through research and\/or clinical laboratories was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>100 patients from 86 Albertan families were enrolled. Overall prevalence was 2.3 per 100,000, with 2.8 per 100,000 in the Indigenous population. Forty\u2010eight families (56%) were found to have pathogenic variants in 17 genes, including <jats:italic>SPAST<\/jats:italic> (29.2%), <jats:italic>SPG7<\/jats:italic> (20.8%), <jats:italic>SPG11<\/jats:italic> (8.3%), <jats:italic>CAPN1<\/jats:italic> (6.3%), and <jats:italic>SACS<\/jats:italic> (6.3%). 58% of families had complex HSP. 36\/66 White (European) families, 5\/8 Indigenous families, 4\/8 Asian families and 2\/3 Middle Eastern families were confirmed with a genetic diagnosis. One Black (African) family was enrolled and tested positive for <jats:italic>PI4KA<\/jats:italic>. In Indigenous families, pathogenic variants were found in <jats:italic>CTNNB1<\/jats:italic>, <jats:italic>SACS<\/jats:italic>, <jats:italic>SPG7<\/jats:italic>, and <jats:italic>SYNE1<\/jats:italic>. Abnormalities of brain MRI were more frequently observed in patients with <jats:italic>SACS<\/jats:italic>, <jats:italic>SPG7<\/jats:italic>, <jats:italic>SPG11<\/jats:italic>, and <jats:italic>ANO10<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study details findings in HSP patients in Alberta and is the first study to examine prevalence and types of HSP in the Indigenous Peoples of Alberta. It highlights the need for familiarity with the phenotypes and genotypes in the different ethnic populations in Alberta.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.70115","type":"journal-article","created":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T06:19:03Z","timestamp":1746425943000},"page":"1346-1356","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hereditary Spastic Paraplegia in Alberta: Lessons from a Well\u2010Defined Cohort Including the Indigenous Population"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9291-8625","authenticated-orcid":false,"given":"Ekhlas","family":"Assaedi","sequence":"first","affiliation":[{"name":"College of Medicine Taibah University  Medina Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setareh","family":"Ashtiani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary  Calgary AL Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad A.","family":"Estiar","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard  Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0332-234X","authenticated-orcid":false,"given":"Ziv","family":"Gan\u2010Or","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery McGill University  Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica D.","family":"McKenzie","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences and Critical Care Medicine University of Calgary  Calgary AL Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aakash","family":"Shetty","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology) University of Alberta  Edmonton AL Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8403-1418","authenticated-orcid":false,"given":"Guy","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery McGill University  Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oksana","family":"Suchowersky","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary  Calgary AL Canada"},{"name":"Department of Medicine (Neurology) University of Alberta  Edmonton AL Canada"},{"name":"Department of Medical Genetics, Pediatrics and Psychiatry University of Alberta  Edmonton AL Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.10.871"},{"key":"e_1_2_10_3_1","unstructured":"HederaP.Hereditary spastic paraplegia overview. 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