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…A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene
Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…
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