Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

@article{Bourque2018NovelEM,
  title={Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)},
  author={Pierre R. Bourque and Jodi Warman-Chardon and Daniel A. Lelli and Lauren LaBerge and Carly Kirshen and Scott H. Bradshaw and Taila Hartley and Kym M. Boycott},
  journal={Neurology: Genetics},
  year={2018},
  volume={4}
}
Erythrokeratodermia (EK) is a rare skin disorder, likely genetic and usually present from infancy.1 There is patchy symmetrical involvement over the body surface, manifested in progressive figurate plaques of hyperkeratosis and more transient areas of erythema. There is significant overlap in the clinical and genetic features of the “variabilis” and “progressiva” forms of EK. Restricted cutaneous syndromes of EK have been described associated with mutations in the connexin (GJB3, GJB4, and GJA1… 

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These findings are the first to confirm ELOVL4 as the cause of SCA34, an autosomal dominant complex form of ataxia that was first described in 1972 with the report of a French-Canadian family with multiple affected individuals.

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