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.…Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation
Objective: We present a case of a patient who presented with limb dystonia and was found to have HSP associated with a previously unreported compound…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…
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