Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females
G Sorarù, C D'Ascenzo, A Polo, A Palmieri… - Journal of the …, 2008 - Elsevier
Spinal and bulbar muscular atrophy (SBMA) is an adult form of X-linked motor neuron
disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen
receptor (AR) gene. Nuclear accumulation of mutant AR with expanded polyglutamines in
motor neurons is a major pathogenic mechanism. To characterize muscle involvement in
SBMA the skeletal muscle biopsies of 8 SBMA patients and 3 female carriers were studied.
Six of 8 SBMA patients showed myogenic changes together with the neurogenic atrophy in …
disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen
receptor (AR) gene. Nuclear accumulation of mutant AR with expanded polyglutamines in
motor neurons is a major pathogenic mechanism. To characterize muscle involvement in
SBMA the skeletal muscle biopsies of 8 SBMA patients and 3 female carriers were studied.
Six of 8 SBMA patients showed myogenic changes together with the neurogenic atrophy in …