Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women

Neurology

Volumn 59, Issue 5, 2002, Pages 770-772

  Schmidt, Brian J ^a,d   Greenberg, Cheryl R ^b   Allingham Hawkins, Diane J ^c   Spriggs, Elizabeth L ^b  

^a UNIVERSITY OF MANITOBA   (Canada)

^b UNIVERSITY OF MANITOBA   (Canada)

^c NORTH YORK GENERAL HOSPITAL   (Canada)

^d HEALTH SCIENCES CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAM; FASCICULATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; KENNEDY DISEASE; MOTOR NERVE CONDUCTION; MUSCLE CRAMP; MUSCLE TWITCH; PEDIGREE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

EID: 0037056302     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.5.770     Document Type: Article

References (10)

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2. Meriggioli MN, Rowin J, Sanders DB. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve 1999;22:1693-1697.
3. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex linked recessive trait. Neurology 1968;18:671-680.
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6. Neuschmid-Kaspar F, Gast A, Peterziel H, et al. CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. Mol Cell Endocrinol 1996;117:149-156.
7. Cha J-HJ, Dure LS. Trinucleotide repeats in neurological diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. Life Sci 1994;54:1459-1464.
8. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
9. Ferrante MA, Wilbourn AJ. The characteristic electrodiagnostic features of Kennedy's disease. Muscle Nerve 1997;20:323-329.
10. Lumbroso S, Lobaccaro J-M, Vial C, et al. Molecular analysis of the androgen receptor gene in Kennedy's disease. Horm Res 1997;47:23-29.