Article
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.
Journal of the neurological sciences - 15 Jan 2008
Sorarù Gianni, D'Ascenzo Carla, Polo Alberto, Palmieri Arianna, Baggio Linda, Vergani Lodovica, Gellera Cinzia, Moretto Giuseppe, Pegoraro Elena, Angelini Corrado
Abstract excerpt
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...
Topics
- Adult
- Aged
- Aged, 80 and over
- Biopsy
- Creatine Kinase
- DNA Repeat Expansion
- Disease Progression
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Male
- Middle Aged