Genetic defects causing complex movement disorders and basal ganglia degeneration in childhood
Objective: To characterize genotype–phenotype correlations in basal ganglia degeneration (BGD) in childhood. Background: BGD in childhood causes movement disorders, neurodevelopmental dysfunction and long-lasting severe disability.…Analysis of gene polymorphisms of Parkinson’s disease in Han Chinese population
Objective: Sequencing of Parkinson Disease（PD) genes were used in our research in order to study the polymorphism of PD related genes of Chinese Han people.…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:…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Intracranial calcifications and dystonia associated with a novel deletion encompassing SLC20A2 and THAP1
Objective: Describe a case of dystonia and intracranial calcifications associated with a deletion within 8p11.21 Background: Multiple genes located within chromosome 8p11.21 are associated with…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): a Mexican case report.
Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of…
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