Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results

Mathieu W. Lenders, Mervyn D. Vergouwen, Gerard Hageman, Joffrey A. van der Hoek, Elly F. Ippel, Ernst N. Jansen Steur, H.P.J. Buschman, Marwan Hariz

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    We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinical features are (1) childhood-onset; (2) extrapyramidal motor symptoms; (3) dysarthria; and (4) mental retardation. Additional findings include loss of D2-receptors in both basal ganglia and hypoplasia of the cerebellar vermis with dilatation of the fourth ventricle and cisterna magna. There seems to be a progressive and non-progressive form of this clinical entity. Dystonic symptoms of the progressive form that occurred in one of the brothers were alleviated dramatically by bilateral internal globus pallidus (Gpi) stimulation, and the improvement has lasted now for 5 years.
    Original languageUndefined
    Article number10.1016/j.ejpn.2005.10.002
    Pages (from-to)5-9
    Number of pages5
    JournalEuropean journal of paediatric neurology
    Issue number2
    Publication statusPublished - 2006


    • IR-63556
    • METIS-238206
    • EWI-7422
    • bilateral globus pallidus stimulation
    • genetic heterogeneity
    • generalized familiar dystonia
    • Early-onset dystonia

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