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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

✍ Scribed by Cyril Goizet; Amir Boukhris; Emeline Mundwiller; Chantal Tallaksen; Sylvie Forlani; Annick Toutain; Nathalie Carriere; Véronique Paquis; Christel Depienne; Alexandra Durr; Giovanni Stevanin; Alexis Brice

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
176 KB
Volume
30
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Mireille Claustres

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure dominant forms of the disease. We sequenced the motor domain of KIF5A in a large panel of 205 European HSP patients with either pure or complicated forms of the disease. We identified eight different heterozygous missense mutations, seven novels, in eight different families of French origin. Residue R280 was a mutational hot spot. Interestingly, the patients in 7/8 families had a complex phenotype, with peripheral neuropathy, severe upper limb amyotrophy (Silver syndrome-like), mental impairment, parkinsonism, deafness and/or retinitis pigmentosa as variably associated features. We report the largest series of SPG10 families described so far, which extends both the mutational spectrum of the disease and its phenotype, which now includes complicated forms of HSP. SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France.

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