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NEUROLOGY 2004;63:2168-2169
© 2004 American Academy of Neurology
Brief Communications

Generalized dystonia and striatal calcifications with lipoid proteinosis

H. A.G. Teive, MD, E. R. Pereira, MD, J. A.A. Zavala, MD, M. C. Lange, MD, L. de Paola, MD, S. Raskin, MD, PhD, L. C. Werneck, MD, PhD, T. Hamada, MD and J. A. McGrath, MD

From the Movement Disorders Unit (Drs. Teive, Pereira, Zavala, Lange, de Paola, and Werneck), Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil; Genetika Laboratory (Dr. Raskin), Curitiba, Paraná, Brazil; Department of Dermatology (Dr. Hamada), Kurume University School of Medicine, Kurume, Fukuoka, Japan; and Genetic Skin Disease Group (Dr. McGrath), St. John’s Institute of Dermatology, The Guy’s, King’s College and St. Thomas’ Hospitals’ Medical School, London, UK.

Address correspondence and reprint requests to Dr. Hélio Teive, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil; e-mail: hagteive{at}mps.com.br

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.

Received March 9, 2004. Accepted in final form July 16, 2004.




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