18 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…
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…
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…
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…
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.
Our primary objective is to compare neuroimaging markers on a 3T MRI-scan with the MRI-scans that were performed during TRACK-HD in 2008-2011. We will assess the following neuroimaging markers, starting with the most important marker: 1. Structural…
Primary objective:- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dtuch SCA7 mutation carriers.Secondary objectives:- To quantify the annual change in disease-relevant clinical scales and…
This study aims to assess metabolism in patients with DM1, in resting state, in the normal situation and during exercise, taking into account muscle mass, and compared to healthy age- and gender-matched subjects. We hypothesize that DM1 is…
To investigate the feasibility and usefulness of various MR techniques as a quantitative biomarker for SMA severity and disease progression. Two different MR protocols will be used. The first to investigate muscle tissue in the upper leg of both SMA…
* To investigate oculomotor and vestibular activity in individuals with RTT. * To compare oculomotor and vestibular activity with more functional eye gaze and communication skills. * To compare oculomotor and vestibular activity with severity of…
(I) Compare shoulder loads estimated with musculoskeletal simulations, stability and associated muscular effort of subjects with FSHD and healthy controls during the performance of standardized upper extremity tasks with and without an arm support…