Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2014 Nov;24(11):978-81. doi: 10.1016/j.nmd.2014.06.441. Epub 2014 Jul 3.

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

Author information

1
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. Electronic address: christopher.grunseich@nih.gov.
2
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
3
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA; Department of Cell and Molecular Biology, Karolinska Institute, 17177 Stockholm, Sweden.
4
Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, MD 20892, USA.
5
Electromyography Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
6
Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD 20892, USA.

Abstract

Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.

KEYWORDS:

Androgen receptor; Genetics; Kennedy’s disease; Motor neuron disease; Spinal bulbar muscular atrophy

PMID:
25047668
PMCID:
PMC4252652
DOI:
10.1016/j.nmd.2014.06.441
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center