title: Familial leukoencephalopathy with slowly progressive dystonia and ataxia.
abstract: We describe two siblings with childhood onset, slowly progressive generalized dystonia and cerebellar signs. Brain neuroimaging revealed white matter abnormalities compatible with a neuronal degenerative disorder. An extensive evaluation for mitochondrial, metabolic, autoimmune or other known neurodegenerative disorders did not reveal the etiology of the disease. During a three-year follow-up other neurological signs appeared, but progression was very slow. We believe that our patients have a new type of a leukoencephalopathy with slowly progressive dystonia and cerebellar signs.
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Israel.
authors.forename: Lubov
authors.initials: L
authors.lastname: Blumkin
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
authors.forename: Marieta
authors.initials: M
authors.lastname: Anca-Herschkovitsch
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D001259:Ataxia / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D020821:Dystonic Disorders / Q000150:complications* / Q000000981:diagnostic imaging; D005192:Family Health; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D011859:Radiography