Evaluating the web-based 'Partner in Balance' program for informal caregivers of people with Huntington's disease: A pilot study.

Background: Huntington's disease (HD) poses significant challenges for both affected individuals and their informal caregivers. With the progression of HD, caregivers frequently prioritize caring for the person with HD over their own well-being. 'Partner in Balance' (PiB) is an 8-week online self-management program guided by a personal coach, developed to help caregivers of people with HD cope with challenging situations and develop skills to increase resilience and prevent overburdening.

Navigating Life With Parkinson's Disease: A Focus Group Study on Coping Strategies and Considerations for Self-Management Support.

Aim: To investigate the experiences of people with Parkinson's disease in coping with and adapting to their disease and to identify considerations for a tailored self-management support program.

Design: A descriptive phenomenological focus group study.

Methods: Five semi-structured focus groups were conducted between April 2023 and June 2023 in the Netherlands, with 12 people with Parkinson's disease.

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

Background: Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX-STUB1/SCA48). Recently, a genetic interaction between STUB1 variants and intermediate or high-normal CAG/CAA repeats in TBP was suggested, indicating digenic inheritance or a disease-modifying role for TBP expansions.

Objective: To determine the presence and impact of intermediate or high-normal TBP expansions in ataxic patients with heterozygous STUB1 variants.

Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective.

Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington's disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient's perspective on such interventions should be included in the further development and implementation of these new treatments.

Objective: To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.

Facilitators and barriers in caring for a person with Huntington's disease: input for a remote support program.

Objectives: This study aims to provide more insight into possible barriers and facilitators caregivers of people with Huntington's disease (HD) encounter, and what their needs and wishes are regarding a remote support program.

Methods: In total, 27 persons participated in four focus group interviews. Eligible participants were caregivers ( = 19) of a person with HD, and healthcare professionals ( = 8) involved in HD care.

Psychotropic medication use in Huntington's disease: A retrospective cohort study.

Background: Whereas the treatment of motor symptoms in Huntington's disease (HD) receives much attention, less is known about the treatment of neuropsychiatric symptoms.

Objective: We aim to give an overview of psychotropic drug use in the treatment of neuropsychiatric symptoms across disease stages in HD.

Methods: We conducted a descriptive cross-sectional study of psychotropic drug prescriptions in a large longitudinal database of HD patients, Enroll HD.

The cross-sectional area of the vagus nerve is not reduced in Parkinson's disease patients.

Background: Recent studies have revealed the importance of the gut brain axis in the development of Parkinson's disease (PD). It has also been suggested that the cross-sectional area (CSA) of the vagus nerve can be used in the diagnosis of PD. Here, we hypothesize that the CSA of the vagus nerve is decreased in PD patients compared to control participants.

Disease Onset in Huntington's Disease: When Is the Conversion?

Background: Determination of disease onset in Huntington's disease is made by clinical experience. The diagnostic confidence level is an assessment regarding the certainty about the clinical diagnosis based on motor signs. A level of 4 means the rater has ≥99% confidence motor abnormalities are unequivocal signs of disease.

Predictive genetic testing in Huntington's disease: should a neurologist be involved?

International guidelines on Huntington's Disease recommend neurological examination in the predictive testing trajectory. Experiences and personal wishes of persons at risk of Huntington's Disease regarding this topic have never been evaluated. The objective was to provide an overview of the experiences of Dutch at-risk persons, opting for predictive testing, in consulting a neurologist before and after DNA analysis.

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.

Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants.

Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children.

To investigate the reasons for the diagnostic delay of juvenile Huntington's disease patients in the Netherlands. : This study uses interpretative phenomenological analysis. Eligible participants were parents and caregivers of juvenile Huntington's disease patients.

Measuring the quality of care in nursing home residents with early-onset neurodegenerative diseases: a scoping review.

Background: Nursing home residents with early-onset neurodegenerative diseases are often younger in comparison with other residents, and need different, often more complex care. Accordingly, the measurements currently used for measuring quality of care in nursing homes may not be suitable for use in this target group. Little is known about the experiences of these residents and of their (in) formal caregivers regarding the quality of care they receive.

Obsessive-Compulsive and Perseverative Behaviors in Huntington's Disease.

Background: Neuropsychiatric symptoms are highly prevalent in Huntington's disease (HD). However, little is known of the prevalence and course of obsessive-compulsive behaviors (OCBs) and perseverative behaviors (PBs) during the progression of the disease.

Objective: This review provides a summary of the literature on OCBs and PBs in HD gene expansion carriers (HDGECs).

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited knowledge on the phenotypic spectrum and disease course. Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p.

Clinical and genetic characteristics of late-onset Huntington's disease.

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive.

Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database.

A detailed analysis of intracerebral hemorrhages in DBS surgeries.

Objectives: Deep brain stimulation is nowadays a frequently performed surgery in patients with movement disorders, intractable epilepsy, and severe psychiatric disorders. The most feared complication of this surgery is an intracerebral hemorrhage due to the electrode placement, either for intraoperative electrophysiology (microelectrode recording) and/or implantation of the final electrode (macroelectrode). Here, we have investigated the risk of developing an intracerebral hemorrhage in our cohort of deep brain stimulation patients over a period of 15 years.