Angela Jochim1, Michael Zech1,2, Gina Gora-Stahlberg1, Juliane Winkelmann2,3, Bernhard Haslinger1. 1. Department of Neurology, Klinikum rechts der Isar Technical University Munich, Munich, Germany. 2. Institute for Neurogenomics, Helmholtz Zentrum München, Munich, Germany. 3. Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
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.
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.
Authors: Zuchra Zakirova; Tomas Fanutza; Justine Bonet; Ben Readhead; Weijia Zhang; Zhengzi Yi; Genevieve Beauvais; Thomas P Zwaka; Laurie J Ozelius; Robert D Blitzer; Pedro Gonzalez-Alegre; Michelle E Ehrlich Journal: PLoS Genet Date: 2018-01-24 Impact factor: 5.917