Article
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
Neurogenetics - 1 Apr 2016
Shao Yi-Hong, Choquet Karine, La Piana Roberta, Tétreault Martine, Dicaire Marie-Josée, Boycott Kym M, Majewski Jacek, Brais Bernard
Abstract excerpt
Mutations in GALC cause Krabbe disease. This autosomal recessive leukodystrophy generally presents in early infancy as a severe disorder, but sometimes manifests as a milder adult-onset disease with spastic paraplegia as the main symptom. We recruited a family with five affected individuals presenting with adult-onset predominant cerebellar ataxia with mild spasticity. Whole exome sequencing (WES) revealed one...
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