We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Cervical dystonia in dentatorubral-pallidoluysian atrophy.
- Authors
Hatano, T; Okuma, Y; Iijima, M; Fujishima, K; Goto, K; Mizuno, Y
- Abstract
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal-dominant neurodegenerative disease characterized by variable clinical phenotypes. Its characteristic clinical manifestations include ataxia, choreoathetotic movements, seizures, myoclonus and dementia, but cervical dystonia has been rarely reported. Here we report a family with DRPLA who presented with cervical dystonia. The proband was a 66-year-old woman. Cervical dystonia was the initial and the most prominent symptom, and mild cerebellar signs and choreic movements were also observed. DNA analysis revealed expanded trinucleotide repeats within the DRPLA gene. The daughter of the proband, a 29-year-old woman, also had cervical dystonia for 3 years. Cranial magnetic resonance imaging showed a mild atrophy of the brainstem and the cerebellum in both of these patients. DRPLA should be considered in the differential diagnosis of patients presenting with cervical dystonia.
- Publication
Acta neurologica Scandinavica, 2003, Vol 108, Issue 4, p287
- ISSN
0001-6314
- Publication type
Journal Article
- DOI
10.1034/j.1600-0404.2003.00150.x