title: Four siblings with Hallervorden-Spatz disease.
abstract: We reported four cases of Hallervorden-Spatz disease. All four siblings (three males and one female) in the family are affected. The first symptoms of the disease were spastic paraparesis and optic atrophy followed by trunkal dystonia and lower motor neurone involvement. The average age of the onset was 4.25 years. The diagnosis was made at the ages of 17, 14, 11 and 10 years. The diagnosis was confirmed clinically, electrophysiologically and by MRI. On MRI scans all patients demonstrated hypointense areas in globus pallidus. There is neither specific treatment nor prenatal diagnosis.
authors.affiliation: Department of Paediatrics, University of Tartu, Lunini 6, 51014, Tartu, Estonia. ulvi.vaher@klinikum.ee
authors.forename: U
authors.initials: U
authors.lastname: Vaher
authors.forename: A
authors.initials: A
authors.lastname: Napa
authors.forename: A
authors.initials: A
authors.lastname: Nurmiste
authors.forename: A
authors.initials: A
authors.lastname: Piirsoo
authors.forename: H
authors.initials: H
authors.lastname: Sibul
authors.forename: T
authors.initials: T
authors.lastname: Talvik
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D009679:Nuclear Family; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics