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Article

CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA.

Brain : a journal of neurology - 1 Jan 2008

Suzuki Keisuke, Katsuno Masahisa, Banno Haruhiko, Takeuchi Yu, Atsuta Naoki, Ito Mizuki, Watanabe Hirohisa, Yamashita Fumitada, Hori Norio, Nakamura Tomohiko, Hirayama Masaaki, Tanaka Fumiaki, Sobue Gen

Abstract excerpt

Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene. The main symptoms are weakness and atrophy of bulbar, facial and limb muscles, but sensory disturbances are frequently found in SBMA patients. Motor symptoms have been attributed to the accumulation of mutant AR in the nucleus of lower motor...

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PMID: 18056738
DOI: 10.1093/brain/awm289

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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