Format

Send to

Choose Destination
See comment in PubMed Commons below
Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.

Myoclonus-dystonia due to maternal uniparental disomy.

Author information

1
Service de Neurologie, Hôpital Saint-Antoine, AP-HP, Paris, France.

Abstract

BACKGROUND:

Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7.

OBJECTIVES:

To describe and investigate the combination of a typical myoclonus-dystonia syndrome and Silver-Russell syndrome.

DESIGN:

Clinical and neurophysiological examination as well as cytogenetic and molecular analyses.

SETTING:

Movement disorder clinic. Patient A 36-year-old man with typical myoclonus-dystonia and Silver-Russell syndrome.

MAIN OUTCOME MEASURES:

Clinical description of the disease and its genetic cause.

RESULTS:

Cytogenetic analysis revealed mosaicism for a small chromosome 7 marker chromosome. Microsatellite analysis indicated loss of the paternal allele and maternal uniparental disomy of chromosome 7. In keeping with the maternal imprinting mechanism, no unmethylated allele of SGCE was detected after bisulfite treatment of the patient's DNA, and reverse transcription-polymerase chain reaction demonstrated loss of SGCE expression. Molecular analysis ruled out mutations in the SGCE gene.

CONCLUSIONS:

We identified a new genetic alteration-maternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.

PMID:
18852357
DOI:
10.1001/archneur.65.10.1380
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Support Center