Rev Neurol (Paris) 2017 May 1;173(5):326-337. Epub 2017 May 1.
Laboratoire d'imagerie biomédicale, Sorbonne universités, UPMC University Paris 06, CNRS, Inserm, 75013 Paris, France; Département des maladies du système nerveux, hôpital Pitié-Salpêtriere, centre référent-SLA, AP-HP, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address:
Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations. Read More