Familial leukoencephalopathy with slowly progressive dystonia and ataxia.
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.
Blumkin
Lubov
L
Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Israel.
Mandel
Hanna
H
Anca-Herschkovitsch
Marieta
M
Kivity
Sara
S
Lev
Dorit
D
Lerman-Sagie
Tally
T
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