Genetic analysis of three patients with an 18p- syndrome and dystonia

C. Klein, C. E. Page, P. LeWitt, M. F. Gordon, D. De Leon, Y. Awaad, X. O. Breakefield, M. F. Brin, Laurie J. Ozelius

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38 Scopus citations

Abstract

Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 DNA markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). Dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies.

Original languageEnglish
Pages (from-to)649-651
Number of pages3
JournalNeurology
Volume52
Issue number3
DOIs
StatePublished - Feb 1999
Externally publishedYes

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