Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation
Introduction Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders
including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) …
including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) …
Psychiatric disorders, myoclonus dystonia and SGCE: an international study
KJ Peall, JM Dijk, R Saunders‐Pullman… - Annals of clinical …, 2016 - Wiley Online Library
Abstract Objective Myoclonus‐dystonia (M‐D) is a hyperkinetic movement disorder, typically
alcohol‐responsive upper body myoclonus and dystonia. The majority of autosomal …
alcohol‐responsive upper body myoclonus and dystonia. The majority of autosomal …
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia
A Weissbach, M Kasten, A Grünewald… - Parkinsonism & related …, 2013 - Elsevier
BACKGROUND: Neurological and psychiatric disorders show clinical overlap suggesting a
shared pathophysiological background. We evaluated myoclonus-dystonia, a monogenic …
shared pathophysiological background. We evaluated myoclonus-dystonia, a monogenic …
A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability
M Delgado-Alvarado, A Matilla-Dueñas… - Neurological …, 2020 - Springer
Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE) is a rare disorder
characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and …
characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and …
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
MI Vanegas, A Marcé-Grau, L Martí-Sánchez… - Parkinsonism & Related …, 2020 - Elsevier
Objective To perform phenotype and genotype characterization in myoclonus-dystonia
patients and to validate clinical rating tools. Method Two movement disorders experts rated …
patients and to validate clinical rating tools. Method Two movement disorders experts rated …
Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in ε-sarcoglycan deficient mice
Mutations of ε-sarcoglycan gene (SGCE) have been implicated in myoclonus-dystonia (MD),
a movement disorder. To determine the pathophysiology of MD, we produced Sgce …
a movement disorder. To determine the pathophysiology of MD, we produced Sgce …
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus–dystonia syndrome
M Szubiga, M Rudzińska, M Bik-Multanowski… - Neurological …, 2013 - Taylor & Francis
Objective and importance: Myoclonus–dystonia syndrome (MDS, DYT11) is an inherited
disorder characterized by clinical and genetic heterogeneity. MDS is inherited in autosomal …
disorder characterized by clinical and genetic heterogeneity. MDS is inherited in autosomal …
A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia
ABSTRACT Background Myoclonus‐Dystonia syndrome (M‐D) is an autosomal‐dominant
movement disorder related to SGCE gene pathogenic variants. Although there can be …
movement disorder related to SGCE gene pathogenic variants. Although there can be …
[HTML][HTML] Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study
R Zutt, JM Dijk, KJ Peall, H Speelman… - Frontiers in …, 2016 - frontiersin.org
Introduction Myoclonus–dystonia (M–D) is a young onset movement disorder typically
involving myoclonus and dystonia of the upper body. A proportion of the cases are caused …
involving myoclonus and dystonia of the upper body. A proportion of the cases are caused …
Myoclonus-dystonia: distinctive motor and non-motor phenotype from other dystonia syndromes
ER Timmers, M Smit, A Kuiper, AL Bartels… - Parkinsonism & related …, 2019 - Elsevier
Background Myoclonus-dystonia (MD) due to a pathogenic variant of SGCE is an autosomal
dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders …
dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders …
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