Open AccessA Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia
Author(s) -
Mariangela Lo Giudice,
Marcella Neri,
Michele Falco,
Maurizio Sturnio,
Elisa Calzolari,
Daniela Benedetto,
Marco Fichera
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.2.284
Subject(s) - hereditary spastic paraplegia , missense mutation , proband , genetics , mutation , gene , penetrance , biology , phenotype
To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP).
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