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Article

Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy.

Neuron - 16 Apr 2014

Cortes Constanza J, Ling Shuo-Chien, Guo Ling T, Hung Gene, Tsunemi Taiji, Ly Linda, Tokunaga Seiya, Lopez Edith, Sopher Bryce L, Bennett C Frank, Shelton G Diane, Cleveland Don W, La Spada Albert R

Abstract excerpt

X-linked spinal and bulbar muscular atrophy (SBMA) is characterized by adult-onset muscle weakness and lower motor neuron degeneration. SBMA is caused by CAG-polyglutamine (polyQ) repeat expansions in the androgen receptor (AR) gene. Pathological findings include motor neuron loss, with polyQ-AR accumulation in intranuclear inclusions. SBMA patients exhibit myopathic features, suggesting a role for muscle in...

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Identifiers

PMID: 24742458
DOI: 10.1016/j.neuron.2014.03.001
PMCID: PMC4096235

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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