title: Generalized dystonia and striatal calcifications with lipoid proteinosis.
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.
authors.affiliation: Movement Disorders Unit,Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
authors.forename: H A G
authors.initials: HA
authors.lastname: Teive
authors.forename: E R
authors.initials: ER
authors.lastname: Pereira
authors.forename: J A A
authors.initials: JA
authors.lastname: Zavala
authors.forename: M C
authors.initials: MC
authors.lastname: Lange
authors.forename: L
authors.initials: L
authors.lastname: de Paola
authors.forename: S
authors.initials: S
authors.lastname: Raskin
authors.forename: L C
authors.initials: LC
authors.lastname: Werneck
authors.forename: T
authors.initials: T
authors.lastname: Hamada
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000328:Adult; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000473:pathology; D020821:Dystonic Disorders / Q000209:etiology*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006624:Hippocampus / Q000000981:diagnostic imaging / Q000473:pathology; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D017444:Skin Diseases, Papulosquamous / Q000209:etiology; D014057:Tomography, X-Ray Computed
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins