## Abstract We report on an Italian kindred with adultโonset 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
Italian family with cranial cervical dystonia: Clinical and genetic study
โ Scribed by Emanuele Cassetta; Nicoletta Del Grosso; Anna Rita Bentivoglio; Enza Maria Valente; Marina Frontali; Alberto Albanese
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 47 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0885-3185
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## Abstract We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twentyโfour individuals spanning three generations were examined by two movementโdisorder neurologists. Two other movementโdisorder neurologists evaluated the videos independently. Su
## 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 cranialโcervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family wi