Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Gerrits, M C F; Foncke, E.M.J.; Haan, R de; Hedrich, Katja; Leemput, Y L C van de; Baas, Frank; Ozelius, Laurie J.; Speelman, Johannes D.; Klein, Christine; Tijssen, Marina A. J.

doi:10.1212/01.wnl.0000201192.66467.a3

Cited by 43 publications

(34 citation statements)

References 10 publications

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“…5 Levodopa has been shown in isolated cases to improve symptoms. 7 Botulinum toxin is an option to treat focal dystonia. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) and ventral intermediate thalamic nucleus have been shown to improve symptoms in more than 70% of patients with DBS-GPi, having fewer adverse effects.…”

Section: Go To Sectionmentioning

confidence: 99%

Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Blackburn¹,

Cirillo²

2012

Neurology

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Section: Go To Sectionmentioning

confidence: 99%

Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Blackburn¹,

Cirillo²

2012

Neurology

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“…14 Our findings are not sufficient to conclude whether different SGCE mutations could lead to different phenotypes.…”

Section: Discussionmentioning

confidence: 58%

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus‐dystonia

et al. 2007

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Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. Myoclonic movements of the arms and axial muscles are associated with dystonic movements of the neck and arms in more than 50% of the patients. The mode of inheritance is autosomal dominant with variable severity and incomplete penetrance. Laboratory screening including EEG and SSEP are normal in most cases. 1 Changes in personality as well as obsessive compulsive disorder, panic syndrome, alcoholism, and other psychiatric disorders may be associated with M-D. 2 An association with epilepsy has also been described. 3,4 Mutations of the ε-sarcoglycan gene (SGCE) were reported in some M-D families. 5 M-D has reduced penetrance and most of the patients express the disease when the mutant allele is inherited from their fathers, which is consistent with the suggestion of maternal imprinting of this gene. 6 Furthermore, single variants of the dopamine D2-receptor gene (DRD2) and DYT1 genes were found in combination with SGCE mutations and a second locus was mapped on chromosome 18. 7,8 We screened two Brazilian M-D patients for SGCE mutations and identified an SGCE mutation in each (including a novel de novo mutation). To our knowledge, these are the first SGCE mutations described in Brazil. Patient 1This patient has been reported in a previous study without genetic analysis. 9 He is a 35-year-old man who first showed involuntary movements in various parts of the body with difficulty writing at the age of 15. The abnormal movements worsened with anxiety and improved with alcohol. This latter observation resulted in the intake of large amounts of alcohol to control his symptoms. His paternal grandmother was affected with M-D by history. On examination the patient was anxious. At rest, he had fast and irregular myoclonic movements in the head, shoulders, and arms. These movements worsened during action especially when writing. His left arm showed a dystonic posture. The clinical picture has remained the same for the last 15 years. Mutation screening of SGCE was performed as previously described 10 and showed a G232 ϩ 1A mutation at the splice donor site. Five hundred control chromosomes were negative for this mutation. cDNA analysis was performed (primers and conditions available on request) and revealed a single in frame transcript lacking exon 2. cDNA from control leukocytes showed two transcripts, one with exon 2 and one without this exon. This mutation was also reported in a French patient. 11 Patient 2A 35-year-old, right-handed man, presented at age 7 with involuntary movements in the arms and hands on fine movements and at writing, which showed a progressive course.However, for the last 20 years the clinical picture has remained stable. The patient does not drink alcohol. The use of medications including sodium valproate and clonazepam had no effect on the movements. His past medical history was unremarkable. There was no family history of a similar condition....

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“…Other pathogenic mutations in exon 2 of the SGCE gene have been described, including single base pair [5,7] and whole exon deletions [6], and splicing and nonsense point mutations [5][6][7][8][9], including de novo mutation (179ANC, p.His60Pro) [7]. All these SGCE mutations are thought to cause loss of protein function [6].…”

Section: Discussionmentioning

confidence: 99%

Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder

Bonello

Larner

Alusi

2014

Journal of the Neurological Sciences

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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Cited by 43 publications

References 10 publications

Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Clinical Reasoning: A 13-year-old boy presenting with dystonia, myoclonus, and anxiety

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus‐dystonia

Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder

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