Characteristics of dystonia in the 18p deletion syndrome, including a new case.
Objective of the present study was to evaluate the possible pathophysiology and clinical characteristics of dystonia in patients with the 18p deletion syndrome by describing a new case and reviewing the literature. Dystonia in patients with the 18p deletion syndrome seems to present heterogeneously with a variable age of onset and distribution of symptoms. It may be accompanied with white matter lesions on the MRI. Deletion of 2 known dystonia loci on chromosome 18p, DYT7 and DYT15, or the deletion of another dystonia gene just above the centromere of chromosome 18p may be the cause of dystonia in patients with the 18p deletion syndrome. However, dystonia may also be secondary to structural brain changes often seen in patients with the 18p deletion syndrome.
Postma
Anna G
AG
Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. a.g.postma@neuro.umcg.nl
Verschuuren-Bemelmans
Corien C
CC
Kok
Klaas
K
van Laar
Teus
T
D000328:Adult; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics* / Q000648:ultrastructure; D003582:Cytogenetics; D004421:Dystonia / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D020411:Oligonucleotide Array Sequence Analysis