Generalized dystonia and striatal calcifications with lipoid proteinosis.
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.
Teive
H A G
HA
Movement Disorders Unit,Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. hagteive@mps.com.br
Pereira
E R
ER
Zavala
J A A
JA
Lange
M C
MC
de Paola
L
L
Raskin
S
S
Werneck
L C
LC
Hamada
T
T
McGrath
J A
JA
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
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins