ND39991

Overview

Repository

NINDS Repository

Subcollection

Dystonia

Quantity

3 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from Whole Blood

Race

White

Subject Type

parent/child discordant pair

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Note

This material represents a finite resource (DNA from Whole Blood)

Characterizations

Gene

DYT1

Chromosomal Location

9q34

Allelic Variant 1

128100.0001; DYSTONIA 1, TORSION

Identified Mutation

3-BP DEL, GLU DEL; In cases of early-onset torsion dystonia, Ozelius et al. (1997) identified a 3-bp deletion, GAG, resulting in the loss of 1 of a pair of conserved glutamic acid residues in a novel ATP-binding protein termed torsinA. The GAG deletion was the only mutation detected in a large number of patients from different ethnic backgrounds. Most (90%) patients with an atypical presentation had no identifiable mutation in the DYT1 gene. At least 4 different background haplotypes were observed with the GAG deletion, indicating that the mutation had arisen more than once to cause ITD. Given the highly variable phenotype and reduced penetrance observed in ITD, the identification of the DYT1 mutation was a major advance for accurate diagnosis of the disorder.

Culture Protocols

Supplement

Description:

FOCAL DYSTONIA
LIMB DYSTONIA - LOWER EXTREMITY DYSTONIA

Affected:

Yes

Gender:

Female

Age:

22 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Culture Protocols

Description:

FOCAL DYSTONIA LIMB DYSTONIA - LOWER EXTREMITY DYSTONIA

Affected:

Yes

Gender:

Female

Age:

22 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Culture Protocols

FOCAL DYSTONIA
LIMB DYSTONIA - LOWER EXTREMITY DYSTONIA