POLR3A-Related Disorders and Response to Deep Brain Stimulation
Objective: To expand on the phenotypic spectrum of POLR3A c.1909+22G>A splice variant and report two patients’ tremor response to deep brain stimulation. Background: Polymerase III…Variant frequencies in dystonia and Parkinson’s disease genes cross phenotypic boundaries
Objective: To investigate the frequency of genetic variants in dystonia (DYT) genes in patients with PD and vice versa. Background: The impact of genetic variants…Prevalence of seizures in patients with Neurodegeneration with Brain Iron Accumulation
Objective: To investigate the frequency and pattern of seizures in Neurodegeneration with brain iron accumulation (NBIA) disorders in a South Indian cohort. Background: Seizure as…The role of genetic testing in Dystonia diagnosis
Objective: To determine the contribution of different approaches to the clinical use of genetic tests in dystonia diagnosis. Background: Dystonias are a heterogeneous group of…Hereditary spastic paraparesis due to SPG11 gene mutation presenting as dopa responsive dystonia
Objective: To describe a case of HSP presenting as spastic paraparesis with extrapyramidal features Background: Hereditary spastic paraparesis is a heterogeneous group of neurodegenerative disorders…Diagnostic challenges in a case of SLC6A3-related Dopamine Transporter Deficiency Syndrome
Objective: We report a case presenting with symptoms of classical Dopamine Transporter Deficiency Syndrome (DTDS) with negative results on initial whole-exome sequencing (WES), but eventually…A novel THAP1 variant presenting with early-onset generalized dystonia in a family
Objective: To report a novel mutation in the THAP1 gene presenting with childhood-onset generalized dystonia in a family. Background: DYT6 or DYT-THAP1 is a genetic…A rare case of PDE10A associated dystonia with bilateral striatal lesions
Objective: To describe an interesting and rare case of cervical dystonia associated with PDE10A mutation. Background: Dystonia is the third most prevalent movement disorder in…Mutation screening of PCDHGB1 variants in a large dystonia cohort
Objective: We aimed to systematically evaluate the genetic associations of PCDHGB1with dystonia in a large Chinese dystonia cohort. Background: Recently, PCDHGB1has been identified to be a novel causative…dystonia caused by a rare variant of TUBB4A gene: a case report in a non-asian population
Objective: To describe the first case of a rare variant of the TUBB4A gene in a Brazilian individual Background: TUBB4A-related leukodystrophy presents with various clinical…
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