Publications by authors named "M Oosterloo"
Background: Huntington disease (HD) is a genetic neurodegenerative disorder. Given the focus on motor manifestations, nonmotor symptoms are frequently underappreciated in clinical evaluations, despite frequently contributing to primary functional impairment.
Recent Findings: A diagnosis of motor-onset as the definition of manifest symptoms misrepresents the complex nature of HD presentation.
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.
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- - The study investigates patient preferences regarding new genetic therapies for polyglutamine expansion diseases like Huntington's disease and spinocerebellar ataxia, focusing on factors such as treatment administration and expected benefits.
- - Researchers collected data from 216 patients through an online questionnaire that presented them with various treatment options, assessing their preferences based on multiple attributes using a discrete choice experiment.
- - Findings reveal that patients favor less invasive treatment methods, such as a single operation over repeated lumbar punctures, and they are more inclined towards interventions with higher chances of benefit, while risk and follow-up aspects seem less influential in their decision-making.
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.
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.