KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

doi:10.1038/ejhg.2011.261

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Article

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

European journal of human genetics : EJHG - 1 Jun 2012

Klebe Stephan, Lossos Alexander, Azzedine Hamid, Mundwiller Emeline, Sheffer Ruth, Gaussen Marion, Marelli Cecilia, Nawara Magdalena, Carpentier Wassila, Meyer Vincent, Rastetter Agnès, Martin Elodie, Bouteiller Delphine, Orlando Laurent, Gyapay Gabor, El-Hachimi Khalid H, Zimmerman Batel, Gamliel Moriya, Misk Adel, Lerer Israela, Brice Alexis, Durr Alexandra, Stevanin Giovanni

Abstract excerpt

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the...

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PMID: 22258533
DOI: 10.1038/ejhg.2011.261
PMCID: PMC3355258

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