White Matter Microstructure Changes Revealed by Diffusion Kurtosis and Diffusion Tensor Imaging in Mutant Huntingtin Gene Carriers.

Background: Diffusion magnetic resonance imaging (dMRI) has revealed microstructural changes in white matter (WM) in Huntington's disease (HD).

Objective: To compare the validities of different dMRI, i.e.

Differential diagnosis of chorea (guidelines of the German Neurological Society).

Introduction: Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements.

Symptomatic treatment options for Huntington's disease (guidelines of the German Neurological Society).

Introduction: Ameliorating symptoms and signs of Huntington's disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g.

Factors influencing cognitive function in patients with Huntington's disease from China: A cross-sectional clinical study.

Background And Aim: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains.

Mechanisms underlying phenotypic variation in neurogenetic disorders.

Neurological diseases associated with pathogenic variants in a specific gene, or even with a specific pathogenic variant, can show profound phenotypic variation with regard to symptom presentation, age at onset and disease course. Highlighting examples from a range of neurogenetic disorders, this Review explores emerging mechanisms that are involved in this variability, including environmental, genetic and epigenetic factors that influence the expressivity and penetrance of pathogenic variants. Environmental factors, some of which can potentially be modified to prevent disease, include trauma, stress and metabolic changes.

The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington's Disease from China: A Cross-Sectional Study.

Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. There is a paucity of comprehensive clinical analysis in Chinese HD patients due to the low prevalence of HD in Asia. We aimed to comprehensively describe the motor, neuropsychiatric symptoms, and functional assessment in patients with HD from China.

The Chinese Version of UHDRS in Huntington's Disease: Reliability and Validity Assessment.

Background: The Unified Huntington's Disease Rating Scale (UHDRS) is a universal scale assessing disease severity of Huntington's disease (HD). However, the English version cannot be widely used in China, and the reliability and validity of the Chinese UHDRS have not yet been confirmed.

Objective: To test the reliability and validity of Chinse UHDRS in patients with HD.

Chorea: An Update on Genetics.

Background: Chorea may be present in a number of diseases including hereditary disorders. Major advances have occurred in our understanding of the genetic background of those disorders, and the present short review aims at highlighting the most salient ones.

Summary: Chorea is one of the major manifestations of Huntington's disease.

Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

[This corrects the article DOI: 10.3389/fneur.2022.

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

Background And Purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficient treatment choices are common. Clinical practice guidelines (CPGs) may improve the diagnosis and treatment of patients and optimize care pathways, delivering the best scientific evidence to all clinicians treating these patients.

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge.

Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical severity of HD but relative data are the lack in the Chinese population. Reactive astrocytes are related to HD pathology, which predicts their potential to be a biomarker in HD progression.

The Impact of Upcoming Treatments in Huntington's Disease: Resource Capacity Limitations and Access to Care Implications.

Background: The most advanced disease-modifying therapies (DMTs) in development for Huntington's disease (HD) require intrathecal (IT) administration, which may create or exacerbate bottlenecks in resource capacity.

Objective: To understand the readiness of healthcare systems for intrathecally administered HD DMTs in terms of resource capacity dynamics and implications for patients' access to treatment.

Methods: Forty HD centres across 12 countries were included.

Bilateral pallidal stimulation improves cervical dystonia for more than a decade.

Introduction: Deep brain stimulation (DBS) is an effective treatment in medically resistant cervical dystonia (CD) with a documented therapeutic effect. Long term outcome beyond a decade, however, has not been studied systematically.

Methods: To investigate the impact of pallidal DBS beyond 10 years in CD we followed a series of five consecutive patients with severe medication-resistant CD.

Development and Evaluation of Maze-Like Puzzle Games to Assess Cognitive and Motor Function in Aging and Neurodegenerative Diseases.

There is currently a need for engaging, user-friendly, and repeatable tasks for assessment of cognitive and motor function in aging and neurodegenerative diseases. This study evaluated the feasibility of a maze-like Numberlink puzzle game in assessing differences in game-based measures of cognition and motor function due to age and neurodegenerative diseases. Fifty-five participants, including young (18-31 years, = 18), older (64-79 years, = 14), and oldest adults (86-98 years, = 14), and patients with Parkinson's (59-76 years, = 4) and Huntington's disease (HD; 35-66 years, = 5) played different difficulty levels of the Numberlink puzzle game and completed usability questionnaires and tests for psychomotor, attentional, visuospatial, and constructional and executive function.

Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China.

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG triplet repeats expansion in exon 1 of the Huntingtin gene (). In China, HD is considered to have a low prevalence. The goal of this study was to describe the clinical characteristic and genetic profiles of HD in a Chinese cohort.

International Guidelines for the Treatment of Huntington's Disease.

The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used.

Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages.

Background: Although health-related quality of life is key for patients with long-term neurodegenerative conditions, measuring this is less straightforward and complex in Huntington's disease (HD).

Objectives: To refine and validate a fully patient-derived instrument, the Huntington's Disease health-related Quality of Life questionnaire (HDQoL), and to elucidate health domains that are meaningful to patients' lived experience.

Methods: Five-hundred forty-one participants, from premanifest to end-stage disease, completed the HDQoL, together with generic quality-of-life measures and in-person motor, cognitive, and behavioral assessments.

Rating Scales and Performance-based Measures for Assessment of Functional Ability in Huntington's Disease: Critique and Recommendations.

Limitation of functional ability is a major feature of Huntington's disease (HD). The International Parkinson and Movement Disorder Society (MDS) commissioned the appraisal of the use and clinimetric properties of clinical measures of functional ability that have been applied in HD studies and trials to date, to make recommendations regarding their use based on standardized criteria. After a systematic literature search, we included a total of 29 clinical measures grouped into two categories: (1) performance-based measures (e.

Interrater Reliability of the Unified Huntington's Disease Rating Scale-Total Motor Score Certification.

Background: The clinical assessment of motor symptoms in Huntington's disease is usually performed with the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS). A high interrater reliability is desirable to monitor symptom progression. Therefore, a teaching video and a system for annual online certification has been developed and implemented.