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Article

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Neurobiology of aging - 1 Mar 2021

Khani Marzieh, Shamshiri Hosein, Taheri Hanieh, Hardy John, Bras Jose Tomas, Carmona Susana, Moazzeni Hamidreza, Alavi Afagh, Heshmati Ali, Taghizadeh Peyman, Nilipour Yalda, Ghazanfari Tooba, Shahabi Majid, Okhovat Ali Asghar, Rohani Mohammad, Valle Giorgio, Boostani Reza, Abdi Siamak, Eshghi Shaghayegh, Nafissi Shahriar, Elahi Elahe

Abstract excerpt

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3...

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Identifiers

PMID: 33189404
DOI: 10.1016/j.neurobiolaging.2020.09.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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