Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

G J Jöbsis; E S Louwerse; M de Visser; R A Wolterman; P A Bolhuis; H F Busch; H T Brüggenwirth; F Baas; W M Wiersinga; J H Koelman

doi:10.1016/0022-510x(95)00064-9

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

J Neurol Sci. 1995 May:129 Suppl:56-7. doi: 10.1016/0022-510x(95)00064-9.

Authors

G J Jöbsis¹, E S Louwerse, M de Visser, R A Wolterman, P A Bolhuis, H F Busch, H T Brüggenwirth, F Baas, W M Wiersinga, J H Koelman, et al.

Affiliation

¹ Department of Neurology, Graduate School of Neurosciences Amsterdam, Netherlands.

PMID: 7595622
DOI: 10.1016/0022-510x(95)00064-9

Abstract

Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.

Publication types

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

MeSH terms

Adult
Base Sequence
Creatine Kinase / blood
DNA / analysis
Diagnosis, Differential
Electrophysiology
Humans
Male
Middle Aged
Molecular Sequence Data
Motor Neuron Disease / diagnosis*
Motor Neuron Disease / genetics
Muscular Atrophy, Spinal / diagnosis*
Muscular Atrophy, Spinal / genetics
Receptors, Androgen / genetics

Substances

Receptors, Androgen
DNA
Creatine Kinase