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…SCA48: Ataxia Plus Chorea in a New Spanish Family
Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…Identification of a novel XK mutation in a Chinese patient with McLeod Syndrome
Objective: To present a new McLeod syndrome patient with a novel XKmutation to expand the current knowledge on this disease. Background: McLeod syndrome is an…Aceruloplasminemia Presenting as Huntington’s Disease –Look –Alike with Unique MRI Features
Objective: To report case of generalised chorea due to aceruloplasminemia caused by novel mutation in the CP gene Background: Aceruloplasminemia is a type of Neurodegeneration…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).…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…
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