Huntington’s Disease Genetic Testing Practices in the Lower North Island of New Zealand
Objective: This audit reviewed Huntington’s Disease (HD) diagnostic and predictive testing in New Zealand’s lower North Island. Key objectives included evaluating the frequency of pre-test…Clinical Profile and Key Correlates of Genetic Load, Motor Severity, and Caregiver Burden in an Iranian Huntington’s Disease Cohort
Objective: To characterize an Iranian Huntington’s disease (HD) cohort and quantify associations between CAG repeat length, age at onset, motor severity, and caregiver burden. Background:…VPS13A Disease: 15 Years of Illness Awaiting a Diagnosis
Objective: Objective. Diagnosing a disease with movement disorders is not always easy. It is even more difficult when there is a family history of hereditary…Partial Duplication of NBEA in a Patient Presenting Chorea with Incomplete Penetrance
Objective: To report a novel genotype-phenotype correlation involving a partial duplication of the NBEA gene in a patient presenting with chorea. Background: NBEA has been identified as…Machine Learning for Early Detection of Huntington’s Disease: Integrating Non-Motor Symptoms and Gender-Specific Differences
Objective: To develop a machine learning (ML) model for early Huntington’s disease (HD) detection by integrating non-motor symptoms (NMS) and DNA methylation patterns, leveraging gender-specific…Extracellular Small RNAs in Huntington’s disease: from Brain to CSF Analysis
Objective: To investigate a panel of extracellular small non-coding RNAs (sRNAs) in Huntington's disease gene expansion individuals (HDGE) and its potential as CSF biomarkers. Background:…Machine Learning-Based Frequency-Domain Analysis of Gait Acceleration for Huntington’s Disease Detection
Objective: To investigate the diagnostic utility of machine learning-driven frequency-domain analysis of gait acceleration for the objective identification of Huntington’s Disease (HD). Background: Gait disturbances…Triplet repeat length determines the liquid-liquid phase separation propensity of single-dtranded DNA
Objective: To determine whether CAG trinucleotide repeat number intrinsically governs liquid-liquid phase separation (LLPS) of single-stranded DNA (ssDNA). Background: LLPS has emerged as a fundamental…Clinical and genetic profiles of patients with Huntington’s disease and other hereditary choreas: Experience from an Indian Movement Disorder Clinic.
Objective: The primary aim was to describe the clinical and genetic profiles of patients with suspected hereditary chorea. Secondary aims included investigating the genetic causes…Psychiatric manifestations in premanifest Huntington’s disease as early indicators of motor onset: a systematic review
Objective: To identify and analyze psychiatric manifestations acting as early indicators in individuals carrying the HTT gene mutation during the premanifest stage, evaluating their prevalence…
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