Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
Kaneko
Satoshi
S
Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan.
Kawarai
Toshitaka
T
Yip
Edwin
E
Salehi-Rad
Shabnam
S
Sato
Christine
C
Orlacchio
Antonio
A
Bernardi
Giorgio
G
Liang
Yan
Y
Hasegawa
Hiroshi
H
Rogaeva
Ekaterina
E
St George-Hyslop
Peter
P
D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017433:Protein Structure, Secondary / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*
D008565:Membrane Proteins; C478824:NIPA1 protein, human