{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:05:04Z","timestamp":1774519504952,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T00:00:00Z","timestamp":1557792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS002974"],"award-info":[{"award-number":["NS002974"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U01HG007044"],"award-info":[{"award-number":["U01HG007044"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants in <jats:italic>FA2H<\/jats:italic> have been associated with a wide range of phenotypes including hereditary spastic paraplegia type 35 (SPG35); however, genetically confirmed cases have not been reported in Africa. We report here the first African family with a variant in the <jats:italic>FA2H<\/jats:italic> gene causing SPG35. Four affected siblings with consanguineous parents presented with walking difficulty at age 2\u20133 and progressive limb weakness. They became wheelchair\u2010bound 2 years after disease onset. Neurological examination confirmed lower greater than upper limb weakness and atrophy, brisk reflexes throughout, and spasticity with scissor legs. The patients also had choking, urinary urgency, and mental retardation. A brain MRI showed thin corpus callosum and periventricular leucodystrophy. Testing of 58 SPG genes showed a homozygous variant in <jats:italic>FA2H<\/jats:italic> at the exon 5 donor site c.786+1G&gt;A, which has previously been shown to cause skipping of exons 5 and 6 of the gene transcript. This variant segregated with the disease in the family. This variant has been reported previously with a similar phenotype and slow progression in a population with different background. Here, we confirm its pathogenicity and expand its genetic epidemiology. Studying diverse populations may help to increase understanding of the disease mechanism and ultimately lead to therapeutic targets.<\/jats:p>","DOI":"10.1002\/ajmg.a.61179","type":"journal-article","created":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T13:11:19Z","timestamp":1557839479000},"page":"1122-1125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Hereditary spastic paraplegia type 35 in a family from Mali"],"prefix":"10.1002","volume":"179","author":[{"given":"Guida","family":"Landour\u00e9","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"},{"name":"Service de Neurologie Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"},{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e9kouta","family":"Demb\u00e9l\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lassana","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oumar","family":"Samass\u00e9kou","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salimata","family":"Diarra","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie USTTB  Bamako Mali"},{"name":"Neurogenetics Branch National Institute of Neurological 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