Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.

ABSTRACT:

Background

A heterozygous mutation in the TOR1A gene (DYT1) accounts for isolated dystonia typically presenting during childhood or adolescence, with initial involvement of one limb, spreading rapidly to other limbs and the trunk, sparing craniocervical muscles. However, atypical phenotypes, regarding age at onset, site of presentation, and spreading have been reported.

Methods and findings

In 2006, we described a large Italian family showing atypical phenotypes and intrafamilial clinical variability of DYT1-dystonia. The current article reports on a 12-year follow-up of this family, focusing on disease onset in three previously asymptomatic DYT1 mutation carriers, and the reassessment of initially affected individuals.

Conclusions

The new cases confirm the int

SUBMITTER: Magrinelli F 

PROVIDER: S-EPMC6384170 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature