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Article

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

Cold Spring Harbor molecular case studies - 1 Jul 2017

Dardour Leila, Roelens Filip, Race Valerie, Souche Erika, Holvoet Maureen, Devriendt Koen

Abstract excerpt

Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families...

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PMID: 28679690
DOI: 10.1101/mcs.a001537
PMCID: PMC5495031

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