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…Benign hereditary chorea: A Tunisian family case presentation
Objective: To discuss clinical and genetic characteristics and therapeutic findings in a family with Benign Hereditary Chorea(BFC). Background: Benign hereditary chorea (BHC) is a mild…PNKP deficiency mimicking a benign hereditary chorea: the misleading presentation of a neurodegenerative disorder
Objective: We report on a new case expanding the clinical presentation of PNKP deficiency Background: PNKP gene encodes for a kinase/phosphatase protein involved in DNA…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…Genetic diagnosis of Chorea-acanthocytosis using whole exome sequencing revealed novel VPS13A Gene mutation
Objective: We hereby report a patient who is genetically confirmed Chorea-acanthocytosis (ChAc). Background: ChAc is a rare autosomal recessive genetic disorder caused by mutation of…Huntington’s Disease in Turkey: A Bird’s Eye Review of the Literature
Objective: This study is aimed to make literature review of international/national publications and conference papers on HD from Turkey, aiming to reflect at least partially…Clinical and genetic data of Huntington disease in Uzbekistan patient
Objective: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the…Prevalence of Single Nucleotide Polymorphisms (SNPs) rs362307 or rs362331 in Patients with Huntington’s Disease
Objective: An observational research study is being conducted in patients with Huntington’s disease (HD) to determine the frequency with which the thymine (T) variant of…
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