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

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

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 D(2)-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
Journal	European journal of paediatric neurology : EJPN
Volume	10
Issue number	1
DOIs	https://doi.org/10.1016/j.ejpn.2005.10.002
Publication status	Published - 2006

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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 : EJPN, 10(1), 5-9. https://doi.org/10.1016/j.ejpn.2005.10.002

@article{1cc9614431f943fb85d1d10cc8e17917,

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 D(2)-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",

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",

year = "2006",

doi = "10.1016/j.ejpn.2005.10.002",

language = "English",

volume = "10",

pages = "5--9",

journal = "European journal of paediatric neurology : EJPN",

issn = "1090-3798",

publisher = "W.B. Saunders Ltd",

number = "1",

}

Lenders, MW, Vergouwen, MD, Hageman, G, van der Hoek, JA, Ippel, EF, Jansen Steur, EN, Buschman, HP & 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 : EJPN, vol. 10, no. 1, pp. 5-9. https://doi.org/10.1016/j.ejpn.2005.10.002

TY - JOUR

T1 - Two cases of autosomal recessive generalized dystonia in childhood: 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

Y1 - 2006

N2 - 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 D(2)-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

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 D(2)-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

U2 - 10.1016/j.ejpn.2005.10.002

DO - 10.1016/j.ejpn.2005.10.002

M3 - Article

C2 - 16439172

SN - 1090-3798

VL - 10

SP - 5

EP - 9

JO - European journal of paediatric neurology : EJPN

JF - European journal of paediatric neurology : EJPN

IS - 1

ER -

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

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