## Abstract We report on an Italian kindred with adult‐onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was no
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
✍ Scribed by A. Münchau; E. M. Valente; M. B. Davis; V. Stinton; N. W. Wood; N. P. Quinn; Kailash P. Bhatia
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 115 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0885-3185
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## Abstract The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial–cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family wi
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