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…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…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…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Therapeutic challenges of long-standing chelator therapy in Wilson’s Disease
Objective: To determine the frequency of side effects of long-term copper chelation therapy in Wilson’s disease (WD). Background: WD is a neurometabolic autosomal recessive disorder…GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…The Genetic Landscape of Parkinson’s Disease in an Italian Cohort and the Need for a Standardized Approach
Objective: Our study aimed to identify the genetic determinants and their prevalence in an Italian cohort of Parkinson’s disease (PD) patients. Background: Advances in genetics…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Disease Progression in Patients with PLA2G6-related Parkinsonism: A Longitudinal Study
Objective: To investigate disease progression of PLA2G6-related parkinsonism in a longitudinal study. Background: There is a paucity of follow-up studies on disease progression in PLA2G6-related…The First of Its Kind Genetics Cohort: the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study
Objective: Recruit and characterize a Black and African American (BAA) cohort to better understand Parkinson’s disease (PD). Background: A significant gap exists in our understanding…
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