Movement Disorders in Cerebrotendinous Xanthomatosis
Objective: To report the type of movement disorders, Neuroimaging, and prognosis in nine adult patients with neurological CTX. Background: Cerebrotendinous Xanthomatosis (CTX) is a lipid…Sleep Characteristics in Idiopathic and Genetic Parkinson’s Disease
Objective: To investigate sleep features among individuals with genetic subgroups of PD, including LRRK2 G2019S-PD, GBA-PD, and iPD (idiopathic PD with no known genetic variant). Background:…Prevalence and characteristics of anxiety in Parkinson’s disease
Objective: To evaluate the characteristics of anxiety in relation to motor and non-motor symptoms in a cohort of PD patients. Background: Anxiety is a frequent…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…Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India
Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…Tetradystonics patients may be misdiagnosed?
Objective: Present a case of movement disorder that genetic panel hasn’t tracked in the screening, and it’s stabilization with L-carnitine. Background: isobutyryl-CoA dehydrogenase deficiency is…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…Genetic Analysis of Mendelian mutations in A Large Chinese Early-onset and Familial Parkinson’s Disease
Objective: This study aims to determine the mutation spectrum of Mendelian Parkinson’s disease (PD) genes and clinical features of mutation carriers within a cohort of early-onset…Designing a Device for Real-time Monitoring and Digital Integration of Non-motor Symptoms
Objective: This study aims to prototype a measurement device for the continuous assessment of non-motor symptoms like pain in Parkinson's disease (PD) and their seamless…Complexity of fractal patterns in motor cortical oscillatory activity in rodent models of Parkinson disease
Objective: To investigate whether motor cortical oscillation changes in fractal patterns are associated with a change in the FD in the HALO and the 6-OHDA…
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