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; Hendrik P. Buschman; Marwan Hariz

doi:10.1016/j.ejpn.2005.10.002

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, Hendrik P. Buschman^*, Marwan Hariz

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	5-9
Number of pages	5
Journal	European Journal of Paediatric Neurology
Volume	10
Issue number	1
DOIs	https://doi.org/10.1016/j.ejpn.2005.10.002
Publication status	Published - 1 Jan 2006

Keywords

Bilateral globus pallidus stimulation
Early-onset dystonia
Generalized familiar dystonia
Genetic heterogeneity

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10.1016/j.ejpn.2005.10.002

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Lenders, M. W., Vergouwen, M. D., Hageman, G., van der Hoek, J. A., Ippel, E. F., Jansen Steur, E. N., Buschman, H. P., & Hariz, M. (2006). Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results. European Journal of Paediatric Neurology, 10(1), 5-9. https://doi.org/10.1016/j.ejpn.2005.10.002

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

abstract = "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.",

keywords = "Bilateral globus pallidus stimulation, Early-onset dystonia, Generalized familiar dystonia, Genetic heterogeneity",

author = "Lenders, {Mathieu W.} and Vergouwen, {Mervyn D.} and Gerard Hageman and {van der Hoek}, {Joffrey A.} and Ippel, {Elly F.} and {Jansen Steur}, {Ernst N.} and Buschman, {Hendrik P.} and Marwan Hariz",

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T2 - 5 year follow-up and bilateral globus pallidus stimulation results

AU - Lenders, Mathieu W.

AU - Vergouwen, Mervyn D.

AU - Hageman, Gerard

AU - van der Hoek, Joffrey A.

AU - Ippel, Elly F.

AU - Jansen Steur, Ernst N.

AU - Buschman, Hendrik P.

AU - Hariz, Marwan

PY - 2006/1/1

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AB - 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.

KW - Bilateral globus pallidus stimulation

KW - Early-onset dystonia

KW - Generalized familiar dystonia

KW - Genetic heterogeneity

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

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Keywords

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