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Article

SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Neurogenetics - 1 Mar 2021

Remiche Gauthier, Vandernoot Isabelle, Sadeghi-Meibodi Niloufar, Desmyter Laurence

Abstract excerpt

C19orf12 gene biallelic mutations lead mainly to neurodegeneration with brain iron accumulation-4. A 15-year-old male and his 17-year-old sister complained of cramps and exercise intolerance. Clinical examination of the boy mainly showed distal amyotrophy and mild weakness, while the sister predominantly had a tetrapyramidal syndrome. Widespread chronic neurogenic signs and hypointense signals on the striatum...

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PMID: 33394258
DOI: 10.1007/s10048-020-00631-4

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