Kennedy's disease: clinical and molecular study of two Italian families.
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.
Pareyson
D
D
Divisione di Neurologia, Istituto Nazionale Neurologico C. Besta, IRCCS, Milano.
Castellotti
B
B
Botti
S
S
Defanti
C A
CA
Gellera
C
C
Taroni
F
F
Sghirlanzoni
A
A
D000368:Aged; D001483:Base Sequence; D015342:DNA Probes; D006801:Humans; D007558:Italy; D008875:Middle Aged; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics
D015342:DNA Probes; D011944:Receptors, Androgen