29 results
The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…
The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…
We aim to conduct a five year follow-up amongst the X-ALD carriers and assess their current symptomatic and biochemical status. This data will provide new insights in the progression of the disease in carriers. Moreover we would like to validate a…
Objective of this study is to determine if Optical Coherence Tomography (OCT) measurements are a reliable measure of the severity of neurological impairment in patients with X-ALD and ZSD and therefore if OCT is an acceptable "surrogate"…
To investigate whether the peripheral nervous system is involved in paroxysmal neurological conditions.
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
1. We will recruit 6 probands who experience cerebellar movement disorders with spinocerebellar ataxia features such as uncoordinated movement (i.e. asthenia, asynergy, delayed reaction time and dyschronometria) in limbs and organs such as the eyes…
To gain insight (1) into psychological functioning of couples where one partner is carrier of HD and who have PGD child(ren); and (2) into the family interactions in these families.
The core approach of our proposed project is to investigate three aspects of emotional recognition in the Möbius and congenital bilateral facial paralysis populations through observed facial expressions, and the possible link between them, as…
identification of the needs of families with juvenile Huntington's disease
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
To obtain skin biopsies of healthy volunteers for scientific research.
By studying in which cases what decisions has been made we hope to get more insight into the interpretation of the requirements of the Ministry in everyday practise. Furthermore, it is important to know how all persons involved and especially the…
Now that we have identified the gene underlying the vl mutation and have strong candidates for its genetic modifiers in mouse, we want to investigate their role in human spina bifida. Therefore, our aim is to test GPR161 and its modifier loci for…
The main objective is to understand the role of the noradrenergic system in human cognition by testing specific hypotheses about task performance in D*H patients. A secondary objective is to understand whether and how cognitive function is…
1. To quantify brain iron accumulation in patient with HD using quantitative susceptibility mapping (QSM) at ultrahigh field (7T) as compared to healthy controls (case-control design).2. To link QSM results with specific and well-known clinical CSF…
Part 1: Assess the natural disease course of three congenital myopathies during 24 months. This will enable us to obtain a detailed assessment of the phenotype and genotype, evaluate and optimize the current care, determine the rate of disease…
Primary Objective: • To chart longitudinal disease progression rates for SPG7 and ARSACS by a multisite, prospective natural history study. Secondary Objective(s): • Development of a new clinical SPAX composite scale.• To identify (a combined set of…
Primary Objective- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dutch SCA1 mutation carriers. Secondary Objectives:- To quantify the annual change in disease-relevant clinical scales and…
Objective: The primary objective of this proposal is to develop new sensitive and quantitative outcome measures for clinical trials in LBSL. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.