GLUT1 Deficiency Syndrome with Novel mutation responsive to GPi DBS
Objective: To describe a case of a patient with a progressive primary isolated generalized dystonia of childhood onset associated to a novel SLC2A1 mutation with…The Spectrum of Movement Disorders Associated With NUS1 Pathogenic Variants
Objective: To explore the phenotype of NUS1-related disorders and determine the spectrum of movement disorders in patients with NUS1 pathogenic variants. Background: A growing body…Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…X-Linked Dystonia Parkinsonism as the cause of Isolated Lingual Dystonia (ILD)
Objective: This report aims to describe a 43-year-old Filipino male with ILD aggravated by speech and swallowing. This paper highlights the importance of including XDP…DHDDS and NUS1: A converging pathway and common phenotype
Objective: To report on the clinical spectrum of variants affecting dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate Synthase 1 (NUS1) and particularly to highlight their…Highlighting the dystonic phenotype related to GNAO1
Objective: To characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders. Background: Most reported patients carrying GNAO1 mutations…A novel compound heterozygous PANK2 gene mutation in a South- Asian sexagenarian with atypical PKAN
Objective: To study the clinical course, imaging and genetics of a case of late-onset dystonia-parkinsonism suspected to have Neurodegeneration with Brain Iron Accumulation (NBIA). Background:…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…
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