Update from the international MDSGene initiative: International team science to perform genotype-phenotype correlations for hereditary movement disorders
Objective: The international MDSGene initiative aims to extract, summarize, curate, and illustrate data from movement disorder patients on the phenotypic and mutational level for which…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…Bilateral subthalamic deep brain stimulation combined with thalamotomy for PRRT2-associated generalized dystonia: A case report
Objective: To investigate the efficacy of deep brain stimulation (DBS) and thalamotomy on symptoms improvement in a case of PRRT2-associated childhood-onset generalized dystonia. This would…Globus pallidus deep brain stimulation (GPi-DBS) in one patient with complex early-onset dystonia and KMT2B mutation: A case report
Objective: To assess long term results of GPi-DBS in one patient with generalized dystonia with KMT2B mutation. Background: Mutations in heterozygosis of the KMT2B gene,…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…Screening study of COL6A3 in sporadic isolated dystonia
Objective: To verify the role of COL6A3 in isolated dystonia. Background: COL6A3 has recently been suggested to cause a form of autosomal recessive isolated dystonia.…Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus
Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…
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