Familial leukoencephalopathy with slowly progressive dystonia and ataxia

Lubov Blumkin, Hanna Mandel, Marieta Anca-Herschkovitsch, Sara Kivity, Dorit Lev, Tally Lerman-Sagie

    Research output: Contribution to journalArticlepeer-review

    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.

    Original languageEnglish
    Pages (from-to)530-533
    Number of pages4
    JournalEuropean Journal of Paediatric Neurology
    Volume13
    Issue number6
    DOIs
    StatePublished - Nov 2009

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