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Open Access Green as soon as Postprint is submitted to ZB.
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
Mov. Disord. 31, 747-750 (2016)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Autosomal Recessive ; Col6a3 Mutations ; Dyt27 ; Isolated Dystonia ; Phenotype; Primary Torsion Dystonia; Family; Ano3; Gene
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Journal
Movement Disorders
Quellenangaben
Volume: 31,
Issue: 5,
Pages: 747-750
Publisher
Wiley
Publishing Place
Hoboken
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)