title: Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
abstract: Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.
authors.affiliation: Department of Neurology, Northwestern Institute of Neurosciences, Northwestern University Medical School, Chicago, IL 60611, USA.
authors.forename: A
authors.initials: A
authors.lastname: Hentati
authors.forename: H X
authors.initials: HX
authors.lastname: Deng
authors.forename: H
authors.initials: H
authors.lastname: Zhai
authors.forename: W
authors.initials: W
authors.lastname: Chen
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: A C
authors.initials: AC
authors.lastname: Azim
authors.forename: S
authors.initials: S
authors.lastname: Bohlega
authors.forename: R
authors.initials: R
authors.lastname: Tandan
authors.forename: C
authors.initials: C
authors.lastname: Warner
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: F
authors.initials: F
authors.lastname: Cambi
authors.forename: H
authors.initials: H
authors.lastname: Mitsumoto
authors.forename: R P
authors.initials: RP
authors.lastname: Roos
authors.forename: R M
authors.initials: RM
authors.lastname: Boustany
authors.forename: M
authors.initials: M
authors.lastname: Ben Hamida
authors.forename: F
authors.initials: F
authors.lastname: Hentati
authors.forename: T
authors.initials: T
authors.lastname: Siddique
mesh_terms: D000251:Adenosine Triphosphatases; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002135:Calcium-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009656:North America; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D000074181:Spastin; D014416:Tunisia
chemical_list: D002135:Calcium-Binding Proteins; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human