Genetic analysis of Huntington’s Disease in a Brazilian Amazonian population
Objective: Characterize genetically a series of cases of patients with Huntington’s disease and their family members at risk in the city of Manaus, capital of…The roles of Huntingtin Associated Protein 40 in Huntingtin functions and Huntington’s disease pathogenesis
Objective: Huntington’s disease (HD) is caused by an abnormal expansion of a glutamine tract (polyQ) in huntingtin (HTT), a large scaffold protein with numerous reported…A Unified Staging System for Prodromal and Manifest Huntington’s disease
Objective: To develop an integrated staging methodology for Prodromal and Manifest Huntington’s disease (HD). Background: Once HD is diagnosed clinically (also known as, motor-onset/manifest), HD…A life-threatening case of Anti-IgLON5 disease
Objective: To present a case of anti-IgLON5 disease with life-threatening respiratory complications. Background: Anti-IgLON5 disease is a little known CNS disorder characterized by non-REM and…Acute hemichorea in patient of uncontrolled type 2 diabetes mellitus; a case report with characteristic imaging
Objective: chorea is a rare complication of uncontrolled type 2 diabetes . we report a case of hyperglycemia, due to uncontrolled type 2 diabetes, presented…Huntington Disease-Like 2: A Case Presentation and Review of the Literature
Objective: To present a case of Huntington Disease-Like 2 (HDL2). HDL2 is rare and phenotypically similar to Huntington’s Disease (HD). However the gene, chromosome, and…An updated flow chart for the evaluation of chorea
Objective: The aim of this poster is to provide a tool to facilitate diagnosis of chorea. This flow chart has been presented at previous MDS…Post-stroke movement disorders: an analysis of 24 cases
Objective: To define prevalence of post-stroke movement disorders and correlate their clinical presentation with infarct localisation. Background: Stroke related movement disorders are rare, they can…Clinical and imaging characteristics of manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To compare baseline clinical and imaging characteristics of the GBA and LRRK2 PD manifest cohorts to PD sporadic (sPD) cohort. Background: The phenotype and…Clinical and imaging characteristics of non-manifest LRRK2 and GBA carriers: The PPMI cohort
Objective: To examine baseline clinical and dopamine transporter (DAT) imaging characteristics in a cohort of non-manifest carriers (NMC) of GBA and LRRK2 compared to healthy…
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