Generalized dystonia and striatal calcifications with lipoid proteinosis
Authors:
- H. A.G. TeiveHTH. A.G. Teive
- E. R. PereiraEPE. R. Pereira
- J. A.A. ZavalaJZJ. A.A. Zavala
- M. C. LangeMLM. C. Lange
- L. de PaolaLPL. de Paola
- S. RaskinSRS. Raskin
- L. C. WerneckLWL. C. Werneck
- T. HamadaTHT. Hamada
- J. A. McGrathJMJ. A. McGrath
- 14 December 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (11) , 2168-2169
Abstract
Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.Keywords
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