Format

Send to:

Choose Destination
See comment in PubMed Commons below
Arch Neurol. 2000 Mar;57(3):333-5.

Frequency of the DYT1 mutation in primary torsion dystonia without family history.

Author information

  • 1Fédération de Neurologie, INSERM U289, Hôpital de la Salpétrière, Paris, France.

Abstract

BACKGROUND:

Idiopathic torsion dystonia is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 of the DYT1 gene was the first mutation found, in early-onset dystonia, with an autosomal dominant transmission and reduced penetrance.

OBJECTIVE:

To evaluate the frequency of the DYT1 mutation in patients with idiopathic torsion dystonia but without a family history.

DESIGN:

Prospective cohort study.

SETTING:

Four botulinum toxin clinics in the Paris, France, area.

PATIENTS:

A French population of 100 patients with dystonia.

MAIN OUTCOME:

Frequency of the DYT1 mutation tested by polymerase chain reaction and enzyme restriction analysis for the 946 GAG deletion, and genotype-to-phenotype correlation.

RESULTS:

Only 5 mutation carriers were identified, 4 of whom were part of a group of 10 patients with generalized dystonia. Onset was between ages 5 and 12 years as in typical early-onset dystonia. All 4 patients had cranial muscle involvement, which is atypical for DYT1 mutation carriers. One had segmental dystonia. Molecular analysis of relatives in 2 families demonstrated that the lack of family history was due to reduced penetrance.

CONCLUSIONS:

For accurate diagnosis and genetic counseling, screening for the DYT1 deletion is of great interest in cases with generalized dystonia without a family history. In other cases, positive results are rare.

PMID:
10714658
[PubMed - 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 ...
    Write to the Help Desk