Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…Using Human Neural Tissue Methylation to Decipher Epigenetic Characteristics and Cell Type Pathologies in Huntington’s Disease
Objective: This study combines methylation data from the two largest EWAS studies in Huntington's Disease (HD) human brain tissue [1,2]. Combined, this study yields the…DNA methylation of CDKN2B/CDKN2B-AS1 enhancer in Huntington’s disease and lung cancer
Objective: The aim of this study was to evaluate the DNA methylation of the CDKN2B/CDKN2B-AS1 enhancer with Huntington's disease and lung cancer. Background: Phenomenon of…Genetic features and long-term outcome of Korean patients with Huntington’s disease.
Objective: To investigate the genetic characteristics and long-term outcome of Korean patients with Huntington’s disease. Background: Huntington’s disease is an autosomal dominant neurodegenerative disease, which…Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…Risk and timing of manifest Huntington’s disease in patients with reduced penetrance alleles
Objective: To estimate risk of Huntington’s disease (HD) over time in patients with reduced penetrance (RP) alleles (36-39 CAG repeats) overall, by individual repeat length,…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).…
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