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…Prevalence of Huntington’s Disease in Sardinia, Italy
Objective: We have performed a service-based epidemiological analysis extended to the population residing in Sardinia. The socio-cultural isolation of this large Mediterranean island makes genetic…Huntington’s disease: A case review of Sub-Saharan Africans with diverse origins
Objective: To characterise the Huntingtons disease phenotype in Sub-saharan Africans. Background: Huntington’s disease (HD) is a debilitating neurodegenerative illness that leads to diminished cognitive function,…Intermediate CAG repeat length in the HTT gene and comorbidity – The SHAPE Study (Swedish-Huntingtin-Alleles-and-PhenotypE)
Objective: To 1) determine the distribution of CAG repeats of the Huntingtin gene in a Swedish general population sample, 2) explore the phenotype caused by…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…
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