Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
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.
Hentati
A
A
Department of Neurology, Northwestern Institute of Neurosciences, Northwestern University Medical School, Chicago, IL 60611, USA.
Deng
H X
HX
Zhai
H
H
Chen
W
W
Yang
Y
Y
Hung
W Y
WY
Azim
A C
AC
Bohlega
S
S
Tandan
R
R
Warner
C
C
Laing
N G
NG
Cambi
F
F
Mitsumoto
H
H
Roos
R P
RP
Boustany
R M
RM
Ben Hamida
M
M
Hentati
F
F
Siddique
T
T
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
D002135:Calcium-Binding Proteins; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human