Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.
Jöbsis
G J
GJ
Department of Neurology, Graduate School of Neurosciences Amsterdam, Netherlands.
Louwerse
E S
ES
de Visser
M
M
Wolterman
R A
RA
Bolhuis
P A
PA
Busch
H F
HF
Brüggenwirth
H T
HT
Baas
F
F
Wiersinga
W M
WM
Koelman
J H
JH
D000328:Adult; D001483:Base Sequence; D003402:Creatine Kinase / Q000097:blood; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D004594:Electrophysiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D011944:Receptors, Androgen / Q000235:genetics
D011944:Receptors, Androgen; D004247:DNA; D003402:Creatine Kinase