Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…Movement Disorders in the Plain People
Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples
Objective: To detect the aberrant expression of circulating miRNAs and explore thepotential early diagnostic biomarkers in patients with Parkinson’s disease (PD). Background: In the past…Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations
Objective: a). Identify variants in the SNCA locus which affect risk for REM Sleep Behavior Disorder (RBD). b). Test variant effects on rate and type…Clinicopathologic Characterization and Abnormal Autophagy of HDLS
Objective: We aimed to investigate clinical and pathological characteristics in hereditary diffuse leukoencephalopathy with spheroids (HDLS) patients and explore the potential impact of colony-stimulating factor…Role of APOE ε4 status and Sex on Somatosensory Integration and Dual-Task Cost in Parkinson’s disease
Objective: To determine whether ε4 status relates to impaired somatosensory integration deficits in males more than females in people with Parkinson’s disease (PwPD). Background: Previous…BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson’s disease
Objective: We aimed to explore effects of bone marrow stromal cell antigen‐1 (BST1) rs4698412 allelic variant on brain activation and associative clinical symptoms in Parkinson’s…Evaluation of Balance in Hereditary Ataxias
Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…
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