The clinical phenotype of early-onset isolated dystonia caused by recessiveCOL6A3mutations (DYT27)

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Abstract

Background and Purpose:

We recently identified mutations in the a3 (VI) collagen gene COL6A3 that cause autosomal-recessive isolated dystonia (DYT27). This article gives a detailed description of the clinical phenotype associated with this new type of dystonia.

Methods:

A total of 5 recessive COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape.

Results:

Biallelic COL6A3 mutations cause isolated dystonia with interindividual heterogeneity of distribution and severity. Dystonia was generalized in 3 patients, pronounced in the cranio-cervical region, upper limbs, and trunk; segmental in 1 patient, with the neck and upper limbs affected; and focal with cervical involvement in another patient. Symptoms began in childhood, adolescence, or early adulthood, initially affecting the neck as cervical dystonia or the hand as writer's cramp.

Conclusion:

COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. © 2015 Movement Disorder Society

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