Early-onset ALS with long-term survival associated with spastin gene mutation.
The authors report a 73-year-old patient with a natural history of early-onset ALS for 49 years presenting with limb and bulbar amyotrophy and a pyramidal syndrome. Analysis of the locus SPG4 identified a heterozygous duplication mutation (c.304_309dupGCCTCG) within exon 1 of the spastin gene. We propose that sequence alterations of spastin may comprise a genetic risk factor in a greater spectrum of motor neuron disorders including clinical variants of ALS.
Meyer
T
T
Department of Neurology, University Hospital, Berlin, Germany. thomas.meyer@charite.de
Schwan
A
A
Dullinger
J S
JS
Brocke
J
J
Hoffmann
K-T
KT
Nolte
C H
CH
Hopt
A
A
Kopp
U
U
Andersen
P
P
Epplen
J T
JT
Linke
P
P
D000251:Adenosine Triphosphatases / Q000235:genetics*; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010244:Bulbar Palsy, Progressive / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011712:Pyramidal Tracts / Q000503:physiopathology; D000074181:Spastin; D017741:Survivors
D004247:DNA; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human