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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

✍ Scribed by Depienne, C.; Fedirko, E.; Forlani, S.; Cazeneuve, C.; Ribai, P.; Feki, I.; Tallaksen, C.; Nguyen, K.; Stankoff, B.; Ruberg, M.; Stevanin, G.; Durr, A.; Brice, A.


Book ID
118136819
Publisher
BMJ Publishing Group
Year
2007
Tongue
English
Weight
182 KB
Volume
44
Category
Article
ISSN
0022-2593

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## 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 d