Clinical and electrophysiological features in Chinese patients with Kennedy's disease

A C F Hui; P T Cheung; A S Y Tang; M Fu; L Wong; R Kay; Hong Kong Neuromuscular Disease Study Group

doi:10.1016/j.clineuro.2004.02.002

Clinical and electrophysiological features in Chinese patients with Kennedy's disease

Clin Neurol Neurosurg. 2004 Sep;106(4):309-12. doi: 10.1016/j.clineuro.2004.02.002.

Authors

A C F Hui¹, P T Cheung, A S Y Tang, M Fu, L Wong, R Kay; Hong Kong Neuromuscular Disease Study Group

Affiliation

¹ Department of Medicine & Therapeutics, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, SAR, China. cfhui@cuhk.edu.hk

PMID: 15297006
DOI: 10.1016/j.clineuro.2004.02.002

Abstract

Kennedy's disease is a X-linked neuromuscular disorder caused by an expanded trinucleotide repeat in the androgen receptor gene. To ascertain the clinical diagnosis of Kennedy's disease in a Chinese population, we used a rapid, accurate PCR-based sizing method for the CAG repeat allelotype. The clinical and electrophysiological features of affected patients are described. The CAG repeats ranged from 43 to 53 and were inversely correlated with the age of onset (r = -0.63; P < 0.005).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Action Potentials / physiology
Adult
Asian People* / genetics
Blood Glucose / metabolism
Creatine Kinase / blood
Female
Humans
Male
Middle Aged
Muscular Atrophy, Spinal / blood
Muscular Atrophy, Spinal / ethnology*
Muscular Atrophy, Spinal / physiopathology*
Neural Conduction / physiology
Receptors, Androgen / genetics
Trinucleotide Repeat Expansion

Substances

AR protein, human
Blood Glucose
Receptors, Androgen
Creatine Kinase