Italian family with cranial cervical dystonia: Clinical and genetic study

Emanuele Cassetta, Nicoletta Del Grosso, Anna Rita Bentivoglio, Enza Maria Valente, Marina Frontali, Alberto Albanese

Research output: Contribution to journalArticlepeer-review

Abstract

A white Italian family affected by primary torsion dystonia (PTD) is described. The family phenotype most commonly presented with adult onset, cranial cervical involvement, and focal or segmental distribution without progression to generalization. Thirty-nine family members and nine spouses were studied. Five subjects received a diagnosis of definite PTD, three of probable PTD. Age at onset was in adulthood for all. In four definitely affected subjects, dystonia started in the cranial or cervical districts; in one it presented as writer's cramp. Familial writer's cramp also occurred in the family of the unrelated parent of the latter patient. The mean age at time of examination was 61.8 years in the individuals with a definite diagnosis; 60 in those with a probable diagnosis. At the time of examination, in most of the affected subjects, dystonia was focal; in three cases (two definitely and one probably affected), it was segmental. DNA linkage analysis, although limited by the size of the family, suggested exclusion of linkage between the disease and known PTD loci (DYT6 and DYT7). The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp.

Original languageEnglish
Pages (from-to)820-825
Number of pages6
JournalMovement Disorders
Volume14
Issue number5
DOIs
Publication statusPublished - 1999

Keywords

  • Dystonia
  • DYT1
  • DYT6
  • DYT7
  • Family studies
  • Genetics
  • Linkage
  • Phenotype

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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