Format

Send to

Choose Destination
See comment in PubMed Commons below
J Neurol. 2001 Jan;248(1):23-6.

Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals.

Author information

1
Klinik und Poliklinik für Neurologie Westfälische Wilhelms Universität Münster, Germany. gkuhlen@uni-muenster.de

Abstract

X-linked recessive spinobulbar muscular atrophy (SBMA) is an adult-onset X-linked neurodegenerative disease, characterised by muscular atrophy, bulbar symptoms and endocrinological disturbances. SBMA is caused by the expansion of a CAG repeat in the androgen receptor gene. The maximum number of CAG repeats found in a healthy person is 35 while the minimum number of repeats found in SBMA patients is 38. We have identified a 46-year-old man from an SBMA family with 37 CAG repeats who until now is clinically unaffected. Interestingly, his 85-year-old mother who has the genotype 37/51 CAG repeats is clinically unaffected as well. These results suggest an exactly defined border between normal and disease alleles.

PMID:
11266016
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center