Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene
Objective: To present a case of childhood-onset dystonia with a new mutation in KMT2B gene. Background: KMT2B-related dystonia (DYT-KMT2B) is an increasingly recognized cause of…Hereditary generalised dystonia associated with a new large duplication on the X chromosome
Objective: To describe a family with a new variant in X chromosome as possible aetiology for inherited generalised dystonia. Background: Chromosomopathies are rare but well-known…Long-term outcomes of deep brain stimulation for VPS16-related dystonia: A multi-center international study
Objective: To evaluate long-term effects of DBS in an international cohort of people with VPS16-related dystonia. Background: Variants in VPS16 gene have recently been related…VPS11 associated movement disorder in a pediatric case
Objective: Disorders of intracellular trafficking may present with different neurological features such as pediatric movement disorders. Background: A 15-year-old boy presented with a three-year history…De novo mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia
Objective: To confirm the association between TMEM151A mutation and paroxysmal kinesigenic dyskinesia. Background: Heterozygous mutations in TMEM151A, encoding a protein of undetermined function, have been…Mutation screening and burden analysis of MED27 in dystonia in a Chinese population
Objective: We aimed to systematically evaluate the genetic associations of MED27with dystonia in a dystonia cohort. Background: Recently,Meng et alreported a novel neurodevelopmental syndrome manifested homogeneously as…Improvement of movement disorder and neurodevelopment under selegiline in a CLTC deficient patient
Objective: We report the significative improvement on both movement disorder and neurodevelopment in a 5-year-old CLTC deficient patient treated with selegiline. Background: In 2019 we described a 30-year-old woman…PHENOTYPIC DESCRIPTION OF TWO UNREPORTED FAMILIES WITH ANO3 DYSTONIA
Objective: This is the phenotypic description of two families affected by hereditary dystonia associated to gene ANO3 mutation (DYT24), one with a heterozygous verisimilarly pathogenic…Clinical, imaging and genetic profile of patients with NBIA spectrum disorders
Objective: To describe the clinical, imaging and genetic profile of patients with suspected NBIA disorders Background: NBIA disorders are clinically, radiologically and genetically heterogenous group…
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