The clinical phenotype of early‐onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). Issue 5 (21st December 2015)

• Record Type: Journal Article
• Authors: Jochim, Angela; Zech, Michael; Gora‐Stahlberg, Gina; Winkelmann, Juliane; Haslinger, Bernhard
• Is Part Of: Movement disorders. Volume 31:Issue 5(2016)
• Page Start: 747
• Page End: 750
• Publication Date: 2015-12-21
• Subjects: Isolated dystonia -- COL6A3 mutations -- DYT27 -- autosomal recessive -- phenotype; Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26501
• Languages: English
• ISSNs: 0885-3185

Abstract

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