Kennedy's disease: clinical presentation and laboratory diagnosis.
Kennedy's disease is a form of progressive spinal and bulbar muscular atrophy of adult onset. This paper describes a case of Kennedy's disease and discusses the laboratory diagnosis and the underlying genetic mechanism. Three other neurological diseases, Huntington's disease, myotonic dystrophy and fragile X syndrome, which have similar genetic defects, are also discussed.
Faragher
M W
MW
Department of Neurology, Alfred Hospital, Melbourne.
Choi
W T
WT
MacLean
H E
HE
Warne
G L
GL
Zajac
J D
JD
D000368:Aged; D019411:Clinical Laboratory Techniques; D004587:Electrophoresis, Agar Gel; D005091:Exons; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics
D011944:Receptors, Androgen