{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:07:10Z","timestamp":1790687230156,"version":"4.1.0"},"reference-count":16,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T00:00:00Z","timestamp":1637798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral sclerosis\/frontotemporal dementia (ALS\/FTD) at the age of 67 years. Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T&gt;A (pTyr275*) and c.1193C&gt;T (pPro398Leu) in CYP7B1 gene. No other pathogenic variant in frequent ALS\/FTD causative genes was found. The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes. We therefore expand the phenotype associated with CYP7B1 biallelic mutations and make an assumption about a link between cholesterol dyshomeostasis and ALS\/FTD.<\/jats:p>","DOI":"10.3390\/genes12121876","type":"journal-article","created":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T05:23:02Z","timestamp":1638163382000},"page":"1876","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenoconversion from Spastic Paraplegia to ALS\/FTD Associated with CYP7B1 Compound Heterozygous Mutations"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5694-3759","authenticated-orcid":false,"given":"Julian","family":"Theuriet","sequence":"first","affiliation":[{"name":"Centre SLA de Lyon, H\u00f4pital Neurologique P. Wertheimer, Hospices Civils de Lyon, Universit\u00e9 de Lyon, 59 Boulevard Pinel, CEDEX, 69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Pegat","sequence":"additional","affiliation":[{"name":"Centre SLA de Lyon, H\u00f4pital Neurologique P. Wertheimer, Hospices Civils de Lyon, Universit\u00e9 de Lyon, 59 Boulevard Pinel, CEDEX, 69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Leblanc","sequence":"additional","affiliation":[{"name":"Institut NeuroMyoG\u00e8ne, CNRS UMR5310, INSERM U1217, Facult\u00e9 de M\u00e9decine Rockefeller, Universit\u00e9 Claude Bernard Lyon I, 8 Avenue Rockefeller, CEDEX 08, 69373 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Vukusic","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Scl\u00e9rose en Plaques, Pathologies de la My\u00e9line et Neuro-Inflammation et Fondation Eug\u00e8ne Devic EDMUS Pour la Scl\u00e9rose en Plaques, H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 59 Boulevard Pinel, CEDEX, 69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5195-9348","authenticated-orcid":false,"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, GHU AP-HP, Sorbonne Universit\u00e9, B\u00e2timent de la Pharmacie Secteur Salp\u00eatri\u00e8re 47\/83, Boulevard de l\u2019H\u00f4pital, CEDEX 13, 75651 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0745-6735","authenticated-orcid":false,"given":"St\u00e9phanie","family":"Millecamps","sequence":"additional","affiliation":[{"name":"Institut du Cerveau, ICM, Inserm U1127, CNRS UMR7225, Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 47 Boulevard de l\u2019H\u00f4pital, CEDEX, 75646 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Banneau","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, GHU AP-HP, Sorbonne Universit\u00e9, B\u00e2timent de la Pharmacie Secteur Salp\u00eatri\u00e8re 47\/83, Boulevard de l\u2019H\u00f4pital, CEDEX 13, 75651 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Guillaud-Bataille","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, GHU AP-HP, Sorbonne Universit\u00e9, B\u00e2timent de la Pharmacie Secteur Salp\u00eatri\u00e8re 47\/83, Boulevard de l\u2019H\u00f4pital, CEDEX 13, 75651 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3952-9265","authenticated-orcid":false,"given":"Emilien","family":"Bernard","sequence":"additional","affiliation":[{"name":"Centre SLA de Lyon, H\u00f4pital Neurologique P. Wertheimer, Hospices Civils de Lyon, Universit\u00e9 de Lyon, 59 Boulevard Pinel, CEDEX, 69677 Bron, France"},{"name":"Institut NeuroMyoG\u00e8ne, CNRS UMR5310, INSERM U1217, Facult\u00e9 de M\u00e9decine Rockefeller, Universit\u00e9 Claude Bernard Lyon I, 8 Avenue Rockefeller, CEDEX 08, 69373 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1002\/ana.24611","article-title":"Hereditary Spastic Paraplegia: Clinicogenetic Lessons from 608 Patients: Hereditary Spastic Paraplegia","volume":"79","author":"Wiethoff","year":"2016","journal-title":"Ann. 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