DYT-KMT2B generalized dystonia managed with GPi-DBS
Objective: The phenotypic spectrum in dystonic syndromes in childhood is wide. Mutations in KMT2B gene were first described in 2016 and it means mutations in…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Clinical Characteristics and Management Practices of Pediatric Status Dystonicus
Objective: We present 20 cases of pediatric status dystonicus at a major pediatric center and describe their clinical course. Background: Status dystonicus (SD) is a rare, life-threatening…Rapidly Progressive Pallidopyramidal Syndrome related to Parkin gene mutation
Objective: To describe a case of rapidly progressive Pallidopyramidal syndrome related to Parkin gene mutation. Background: Parkin gene mutations are most commonly found in autosomal…A Comprehensive Evaluation of the Non-Motor Symptoms, Quality of Life and Caregiver Burden in Patients with Idiopathic Dystonia
Objective: To study various non-motor symptoms in idiopathic dystonia patients using validated scales. Background: Dystonia is a hyperkinetic movement disorder. There has been a recent…Motor and Quality of Life Outcomes of Deep Brain Stimulation for Pediatric Dystonia – CHILD-DBS Registry
Objective: To evaluate the motor and quality of life (QoL) outcomes of deep brain stimulation for pediatric dystonia with the following parameters: BFMDRS, total number…A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint
Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…Is GPI DBS as effective to STN DBS for tremor control in Parkinson’s disease?
Objective: To compare the benefits of GPI and STN DBS on tremor in Parkinson’s disease (PD). Background: DBS is a highly effective surgical therapy for…Parkin regulates ER-mitochondria association through interaction with IP3R-Grp75-VDAC1
Objective: The objective of this study is to explore how Parkin modulates the interplay between mitochondria and the endoplasmic reticulum (ER), along with elucidating its…
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