Common Genotypes Of Dystonia and Response To DBS; Tertiary Center Experience
Objective: This study aims to evaluate the impact of deep brain stimulation (DBS) on monogenic dystonia. Background: Monogenic dystonia is a heterogenic group of disorders…Movement Disorder Presentations in Leukoenephalopathy with Calcifications and Cysts
Objective: The aim of this study is to describe the movement disorder phenotypes within a cohort of individuals with Leukoencephalopthy with Calcifications and Cysts. Background:…Longitudinal Assessment of Dystonic Symptoms in Rapid-Onset Dystonia-Parkinsonism: genetic dystonia symptoms vary over time
Objective: To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease Background: The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit…Autosomal Recessive GTPCH Deficiency: Redefining the Phenotypic Spectrum and Outcome
Objective: To describe the clinical phenotype of autosomal recessive GTP cyclohydrolase deficiency (ARGTPCHD), its genetic and metabolic correlates, and their possible predictive value through a…Challenges in Wilson disease management in a resource-limited country: a case report from a tertiary center
Objective: To describe a Wilson disease (WD) case report with severe neurological manifestations who was successfully treated with zinc salt monotherapy, due to unavailability of…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…A 24-year-old female with 18p deletion syndrome presenting with rapidly worsening dystonia
Objective: To describe a case of rapidly worsening dystonia in 18p deletion syndrome. Background: 18p deletion syndrome resulting from deletion of the short arm of…Unraveling the Complexity of Neurodegenerative Disorders: A Case Report of PKAN Suspected in a 24-Year-Old Patient with Severe Dystonia
Objective: To present a case study of a 24-year-old patient with severe dystonia and cognitive decline, suspected to have Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare subtype…The Spectrum of Presenting Phenotypes in Childhood Onset Huntingtons Disease
Objective: Childhood-onset Huntington’s disease (HD) is a rare subset of HD with symptom-onset before the age of 18 years. We here detail the presenting movement…Startle Reflex in CTNNB1 Mutations: A diagnostic Clue
Objective: To describe two patients with CTNNB1 mutation with a startle reflex, an underrecognised clinical sign. Background: CTNNB1 mutations is an increasingly recognised cause of…
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