We describe the clinical features of a brother and sister with non–dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). © 2004 Movement Disorder SocietyPeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/34961/1/20228_ftp.pd
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped t...
Abstract: We describe the clinical and molecular correlates in two Italian families with dopa-respon...
International audiencentroductionAlthough there has been increasing recognition of the occurrence of...
Isolated dystonia refers to a clinical and genetic heterogeneous group of movement disorders causing...
AbstractOur understanding of how genotype determines phenotype in primary dystonia is limited. Famil...
We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinica...
Our understanding of how genotype determines phenotype in primary dystonia is limited. Familial youn...
We describe a large family with a primary focal dystonia from a small Dutch village on a former isla...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting, repetitiv...
Introduction: Although there has been increasing recognition of the occurrence of non-epileptic invo...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disor...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently descri...
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped t...
Abstract: We describe the clinical and molecular correlates in two Italian families with dopa-respon...
International audiencentroductionAlthough there has been increasing recognition of the occurrence of...
Isolated dystonia refers to a clinical and genetic heterogeneous group of movement disorders causing...
AbstractOur understanding of how genotype determines phenotype in primary dystonia is limited. Famil...
We report two brothers with an unknown form of early-onset familiar dystonia. Characteristic clinica...
Our understanding of how genotype determines phenotype in primary dystonia is limited. Familial youn...
We describe a large family with a primary focal dystonia from a small Dutch village on a former isla...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting, repetitiv...
Introduction: Although there has been increasing recognition of the occurrence of non-epileptic invo...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disor...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle cont...
Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one ...
Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently descri...
Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped t...
Abstract: We describe the clinical and molecular correlates in two Italian families with dopa-respon...
International audiencentroductionAlthough there has been increasing recognition of the occurrence of...