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Article

[Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy].

Revue neurologique - 1 Jan 2009

Vandenberghe N, Bouhour F, Petiot P, Gonnaud P-M, Latour P, Broussolle E, Vial C

Abstract excerpt

Recessive X-linked amyotrophic spinobulbar muscular atrophy (SBMA) or Kennedy disease is a neuroendocrine disorder with a slowly progressive phenotype, caused by an expansion of a polymorphic tandem CAG repeat of the androgen receptor gene. Classical clinical hallmarks include onset in the third decade of life, weakness and wasting predominantly in proximal extremity muscles, variable weakness of bulbar muscles,...

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Source

Identifiers

PMID: 18667219
DOI: 10.1016/j.neurol.2008.06.005

Provenance

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.

Related research

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[Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy].PMID 18667219Read ↗

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.Semantic proximity Read ↗

Perspectives of Kennedy's disease.Semantic proximity Read ↗

[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].Semantic proximity Read ↗

Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.Semantic proximity Read ↗

Kennedy's disease: pathogenesis and clinical approaches.Semantic proximity Read ↗

[Clinical features of a genetically identified spinal and bulbar muscular atrophy pedigree].Semantic proximity Read ↗

Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy.Semantic proximity Read ↗

[From gene to disease; androgen receptor gene, androgen insensitivity syndrome, and spinal and bulbar muscle atrophy].Semantic proximity Read ↗

Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscleSemantic proximity Read ↗

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.Semantic proximity Read ↗

[Study on clinical manifestation, genotype and genetic characteristics of two Kennedy disease pedigrees].Semantic proximity Read ↗

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.Semantic proximity Read ↗

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