Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.
The genetic mutation of X-linked recessive bulbospinal neuronopathy is amplification of a polymorphic tandem CAG repeat in the androgen receptor gene. We studied this CAG repeat in 26 Japanese patients from 21 families with X-linked recessive bulbospinal neuronopathy. The number of CAG repeats was significantly correlated with the age at onset of limb muscular weakness (r = -0.596, p < 0.001) and age-adjusted scored disability (r = 0.446, p < 0.03). The length of the CAG repeat therefore seems to be a determinant factor of clinical severity.
Doyu
M
M
Division of Neurology, Aichi Medical University, Japan.
Sobue
G
G
Mukai
E
E
Kachi
T
T
Yasuda
T
T
Mitsuma
T
T
Takahashi
A
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D005190:Family; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009468:Neuromuscular Diseases / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid
D011944:Receptors, Androgen