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…DBS for a patient with KMT2B-SHANK2 related dystonia
Objective: Describe a case of deep brain stimulation (DBS) outcome for a patient with pathogenic variants of Shank2 and KMT2B genes. Background: Prior reports have…Deep Brain Stimulation in Woodhouse Sakati Syndrome:A Single Institution Retrospect Analysis
Objective: Evaluation of clinical response in patients with WSS-associated generalized dystonia following DBS to GPI Background: Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease,…PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.
Objective: To report a rare presentation of a rare disease and illustrate the range of phenotype seen in PLA2G6-associated dystonia-parkinsonism (PLADP). Background: PLA2G6 encodes a…Deep Brain Stimulation in Generalized Dystonia Caused by PRKRA Mutation
Objective: Dystonia is a hyperkinetic movement disorder with a complex pathophysiology. The medical treatment includes pharmacological treatment, including botulinum toxin (BoNT), which is considered the…Internal globus pallidus deep brain stimulation in ACTB-related deafness-dystonia
Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review…
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