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Article

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

PLoS genetics - 1 Aug 2018

Duchesne Amandine, Vaiman Anne, Frah Magali, Floriot Sandrine, Legoueix-Rodriguez Sabrina, Desmazières Anne, Fritz Sébastien, Beauvallet Christian, Albaric Olivier, Venot Eric, Bertaud Maud, Saintilan Romain, Guatteo Raphaël, Esquerré Diane, Branchu Julien, Fleming Anaïs, Brice Alexis, Darios Frédéric, Vilotte Jean-Luc, Stevanin Giovanni, Boichard Didier, El Hachimi Khalid Hamid

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous human neurodegenerative diseases. Amongst the identified genetic causes, mutations in genes encoding motor proteins such as kinesins have been involved in various HSP clinical isoforms. Mutations in KIF1C are responsible for autosomal recessive spastic paraplegia type 58 (SPG58) and spastic ataxia 2 (SPAX2). Bovines also develop...

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Identifiers

PMID: 30067756
DOI: 10.1371/journal.pgen.1007550
PMCID: PMC6089448

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Source receipt: pubmed, retrieved 7 Sept 2026.

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