Mayke Oosterloo
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View article: Pharmacological Treatment of Neuropsychiatric Symptoms in Huntington's Disease: A Systematic Review
Pharmacological Treatment of Neuropsychiatric Symptoms in Huntington's Disease: A Systematic Review Open
Background Studies focusing on the treatment of neuropsychiatric symptoms (NPS) in Huntington's disease (HD) are scarce and show a wide variation in design, outcome measures and methodological quality. The effectiveness of pharmacological …
View article: Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease
Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease Open
The proposed diagnostic criteria more accurately reflect the presentation of HD and provide greater opportunities for health care professionals to provide appropriate clinical care guidelines for adults with gene-expanded HD.
View article: Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington’s disease
Through their eyes: A retrospective mixed-methods study on the experiences and support needs of children growing up with a parent with Huntington’s disease Open
Background Growing up with a parent with Huntington's disease (HD) profoundly impacts children. However, this impact and children's needs are often misunderstood, even by professional services. Even when resources are available, children o…
View article: Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients
Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients Open
Background Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington’s disease (HD), the patients’ preferences regarding these new therapies…
View article: Evaluating the web-based ‘Partner in Balance’ program for informal caregivers of people with Huntington's disease: A pilot study
Evaluating the web-based ‘Partner in Balance’ program for informal caregivers of people with Huntington's disease: A pilot study Open
View article: Quality of care through the eyes of residents with Huntington's disease living in a nursing home: A qualitative explorative study
Quality of care through the eyes of residents with Huntington's disease living in a nursing home: A qualitative explorative study Open
Background: Moving to a nursing home is often unavoidable for late-stage patients with Huntington's disease (HD). Specialized care is needed, adjusted to the specific needs and characteristics of this usually young group within the nursing…
View article: Deep brain stimulation in a patient with dystonic tremor with a novel familial VPS16 gene mutation
Deep brain stimulation in a patient with dystonic tremor with a novel familial VPS16 gene mutation Open
View article: Navigating Life With Parkinson's Disease: A Focus Group Study on Coping Strategies and Considerations for Self‐Management Support
Navigating Life With Parkinson's Disease: A Focus Group Study on Coping Strategies and Considerations for Self‐Management Support Open
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 g…
View article: A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder Open
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, …
View article: Genetic Interventions for Spinocerebellar Ataxia and Huntington’s Disease: A Qualitative Study of the Patient Perspective
Genetic Interventions for Spinocerebellar Ataxia and Huntington’s Disease: A Qualitative Study of the Patient Perspective Open
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 di…
View article: Clinical Review of Juvenile Huntington’s Disease
Clinical Review of Juvenile Huntington’s Disease Open
Juvenile Huntington’s disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset H…
View article: High Levels of Mutant Huntingtin Protein in Tear Fluid From Huntington’s Disease Gene Expansion Carriers
High Levels of Mutant Huntingtin Protein in Tear Fluid From Huntington’s Disease Gene Expansion Carriers Open
Objective Huntington’s disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects middle-aged adults. HD is caused by a CAG repeat expansion in the HTT gene, resulting in the express…
View article: Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients.
Preferences for genetic interventions for SCA and Huntington’s disease: results of a discrete choice experiment among patients. Open
Background Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington’s disease (HD), the patients’ preferences regarding these new therapies…
View article: Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful
Dystonia in Pediatric Huntington's Disease; Prominent and Possibly Painful Open
View article: Facilitators and barriers in caring for a person with Huntington’s disease: input for a remote support program
Facilitators and barriers in caring for a person with Huntington’s disease: input for a remote support program Open
These insights will be used to develop a remote support program for HD caregivers, using a blended and self-management approach. Newly developed and tailored support should be aimed at empowering caregivers in their role and help them cope…
View article: Psychotropic medication use in Huntington's disease: A retrospective cohort study
Psychotropic medication use in Huntington's disease: A retrospective cohort study Open
Psychotropic medication is widely prescribed in HD, for various indications. Antidepressant use decreases proportionally and antipsychotic use increases with advancing disease stages, suggesting a relative decrease in prevalence of anxiety…
View article: The cross-sectional area of the vagus nerve is not reduced in Parkinson's disease patients
The cross-sectional area of the vagus nerve is not reduced in Parkinson's disease patients Open
These findings show that the CSA of the vagus nerve using ultrasonography is not a reliable diagnostic tool in the diagnosis of PD.
View article: Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency
Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency Open
A 7-month-old boy was referred with developmental delay and axial hypotonia (video 1). Screening for inborn errors of metabolism was negative and single nucleotide polymorphism array was normal (46,XY). Myotonic dystrophy (type 1) and spin…
View article: Disease Onset in Huntington's Disease: When Is the Conversion?
Disease Onset in Huntington's Disease: When Is the Conversion? Open
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 mean…
View article: The cross-sectional area of the vagus nerve is not reduced in Parkinson’s Disease patients
The cross-sectional area of the vagus nerve is not reduced in Parkinson’s Disease patients Open
Objective 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 P…
View article: Predictive genetic testing in Huntington’s disease: should a neurologist be involved?
Predictive genetic testing in Huntington’s disease: should a neurologist be involved? Open
View article: De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability Open
View article: Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children
Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children Open
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis. Eligible participants were parents and caregive…
View article: Measuring the quality of care in nursing home residents with early-onset neurodegenerative diseases: a scoping review
Measuring the quality of care in nursing home residents with early-onset neurodegenerative diseases: a scoping review Open
View article: Measuring the Quality of Care in Nursing Home Residents with Early-onset Neurodegenerative Diseases: A scoping review
Measuring the Quality of Care in Nursing Home Residents with Early-onset Neurodegenerative Diseases: A scoping review Open
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 qua…
View article: Additional file 1 of Measuring the quality of care in nursing home residents with early-onset neurodegenerative diseases: a scoping review
Additional file 1 of Measuring the quality of care in nursing home residents with early-onset neurodegenerative diseases: a scoping review Open
Additional file 1. Search terms.
View article: Measuring the Quality of Care in Nursing Home Residents with Early-onset Neurodegenerative Diseases: A scoping review
Measuring the Quality of Care in Nursing Home Residents with Early-onset Neurodegenerative Diseases: A scoping review Open
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 qua…
View article: Obsessive-Compulsive and Perseverative Behaviors in Huntington’s Disease
Obsessive-Compulsive and Perseverative Behaviors in Huntington’s Disease Open
Both OCBs and PBs are characteristic neuropsychiatric features of HD. Perseveration is probably best distinguished from OCBs as it occurs without the individual's full awareness or insight into their presence (and the behavior may not be d…
View article: Erratum: Subthalamic Nucleus High-Frequency Stimulation for Advanced Parkinson's Disease: Motor and Neuropsychological Outcome after 10 Years
Erratum: Subthalamic Nucleus High-Frequency Stimulation for Advanced Parkinson's Disease: Motor and Neuropsychological Outcome after 10 Years Open
Background: Since the introduction of subthalamic nucleus deep brain stimulation (STN DBS), many clinical studies have shown that this therapy is safe and effective in the short and medium term. Only little is known about lon…
View article: Infections in deep brain stimulation: Shaving versus not shaving
Infections in deep brain stimulation: Shaving versus not shaving Open
In our experience nonshaving of cranial hair in DBS surgery does not lead to more infections when compared to shaving. We have changed our protocol to nonshaving based on these findings.