Genetics of Primary Torsion Dystonia
✍ Scribed by Norbert Brüggemann; Christine Klein
- Book ID
- 107545753
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 205 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1528-4042
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## 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
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more
## Abstract Adult‐onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub‐clinical gene carriage, may be of use detecting non‐manifesting gene c
## Abstract Primary torsion dystonia (PTD) has been conceptualized as a disorder of the basal ganglia. However, recent data suggest a widespread pathology involving motor control pathways. In this report, we explored whether PTD is associated with abnormal anatomical connectivity within motor contr