Prion disease with 8 octapeptide repeat insertional mutation presenting with HDL1 phenotype
Objective: To report the clinical and genetic features in a patient with an insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP).…Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene
Objective: This work sought to investigate the frequency and characteristics of movement disorders (MD) associated with repeat expansions or intermediate repeats in the C9orf72 gene.…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…Huntington’s disease in Egypt; A big challenge for a mysterious disease
Objective: To identify the challenges of managing Huntington’s disease in Egypt in order to overcome them. Background: Huntington’s disease (HD) is considered a rare disease…Association between the number of CAG repetitions and cognitive performance in Huntington’s disease in patients of the National Institute of Neurology and Neurosurgery “MVS”
Objective: To establish the relationship between the number of CAG repetitions and the total Montreal Cognitive Assessment (MoCA) scores in patients with Huntington disease (HD).…The genetic study of hereditary chorea in Kazakhstan
Objective: To analyze the genetic background of hereditary chorea in Kazakhstani population. Background: Hereditary chorea (HC) is a group of inherited movement disorders presenting with…Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study
Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…Gene Expression Profiling of depression in Huntington’s disease
Objective: This preliminary study was designed to investigate the gene expression profile by RNA-seq in HD patients with depression and without depression, and between subjects…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…Cerebellar Ataxia in Patients with Huntington’s Disease, an underestimated symptom?
Objective: To analyze the prevalence of cerebellar ataxia in patients with Huntington’s Disease (HD), both early and late on HD progression and correlating the degree…
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