Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

doi:10.1016/j.ajhg.2016.04.002

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Article

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

American journal of human genetics - 5 May 2016

Gan-Or Ziv, Bouslam Naima, Birouk Nazha, Lissouba Alexandra, Chambers Daniel B, Vérièpe Julie, Androschuk Alaura, Laurent Sandra B, Rochefort Daniel, Spiegelman Dan, Dionne-Laporte Alexandre, Szuto Anna, Liao Meijiang, Figlewicz Denise A, Bouhouche Ahmed, Benomar Ali, Yahyaoui Mohamed, Ouazzani Reda, Yoon Grace, Dupré Nicolas, Suchowersky Oksana, Bolduc Francois V, Parker J Alex, Dion Patrick A, Drapeau Pierre, Rouleau Guy A, Ouled Amar Bencheikh Bouchra

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed, suggesting that other genetic causes of HSP are still to be identified. HSP can be inherited in...

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Identifiers

PMID: 27153400
DOI: 10.1016/j.ajhg.2016.04.002
PMCID: PMC4863665

Genes

CAPN1

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