Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease.
Androgen receptor
Kennedy’s disease
Spinal and bulbar muscular atrophy
Spinobulbar muscular atrophy
X-linked
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
19
05
2018
accepted:
28
06
2018
revised:
26
06
2018
pubmed:
15
7
2018
medline:
15
6
2019
entrez:
15
7
2018
Statut:
ppublish
Résumé
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked hereditary lower motor neuron disease, characterized by progressive muscular weakness. An expanded trinucleotide repeat (CAG > 37) in the androgen receptor gene (AR), encoding glutamine, is the mutation responsible for Kennedy's disease. Toxicity of this mutant protein affects both motor neurons and muscles. In this review, we provide a comprehensive, clinically oriented overview of the current literature regarding Kennedy's disease, highlighting gaps in our knowledge that remain to be addressed in further research. Kennedy's disease mimics are also discussed, as are ongoing and recently completed therapeutic endeavours.
Identifiants
pubmed: 30006721
doi: 10.1007/s00415-018-8968-7
pii: 10.1007/s00415-018-8968-7
doi:
Substances chimiques
Receptors, Androgen
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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