Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
- 10 September 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (5) , 770-772
- https://doi.org/10.1212/wnl.59.5.770
Abstract
The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gene causing Kennedy disease in two sisters (ages 34 and 42). Symptoms were limited to occasional muscle cramps and twitches. Physical examinations were normal apart from mild hand tremor in both women and rare perioral fasciculations in the older sibling. Electrodiagnostic studies were normal except for evidence of mild motor axonal loss in the sternocleidomastoid muscle of the older sibling.Keywords
This publication has 9 references indexed in Scilit:
- 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 familiesNeuromuscular Disorders, 2000
- Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathyMuscle & Nerve, 1999
- The characteristic electrodiagnostic features of Kennedy's diseaseMuscle & Nerve, 1997
- Molecular Analysis of the Androgen Receptor Gene in Kennedy’s DiseaseHormone Research, 1997
- CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutationMolecular and Cellular Endocrinology, 1996
- Trinucleotide repeats in neurologic diseases: An hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type ILife Sciences, 1994
- Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathyJournal of the Neurological Sciences, 1993
- Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophyNature, 1991
- Progressive proximal spinal and bulbar muscular atrophy of late onsetNeurology, 1968