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Genomics of Persistent ADHD

To investigate the underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…

Cross-sectional characterisation of elderly using the NeuroCart.

Main objectives:To determine differences in NeuroCart profiles in different sub-groups based on cognitive testing and CSF biomarker profiling (i.e. cognitively normal, pre-symptomatic AD, prodromal AD, MCI, mild AD).To characterize a cohort of…

Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms

Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.

Fatigability in Spinal Muscular Atrophy

To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.

Search for Genetic Factors in Parkinson*s disease

The aims of this study are the ascertainment, characterization, and longitudinal follow-up of a large cohort of Dutch families segregating Parkinson*s disease, including affected and unaffected first-degree relatives. The cohort will be…

Prevention of renal and bladder damage in children with spina bifida by means of early injections with Botulinum-Toxin-A (Botox): a pilot study.

- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) prevent deterioration of the bladder and renal function?- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) decrease the need for an…

The RVCL-ID study - Identifying biomarkers and disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), a monogenic vascular migraine model

1. To identify presymptomatic and symptomatic profiles including (early) disease stages and early biomarkers of disease progression and to elucidate pathophysiological mechanisms, we will investigate RVCL patients at different ages (both symptomatic…

Function of the neuromuscular junction in patients with spinal muscular atrophy (SMA); A cohort study on the function of the neuromuscular junction in Dutch patients with spinal muscular atrophy to elucidate the possible role of the neuromuscular junction in the pathophysiology of spinal muscular atrophy

The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).

Using next generation sequencing to find causative genes in patients with severe microcephaly

To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly

Clinical and molecular genetic aspects of idiopathic epilepsies

(1) Identification of novel loci and genes in which mutations are responsible for the development of inherited epileptic syndromes. (2) Establishing genotype-phenotype correlations; defining the yield of mutation screenings in specific patient…

The Gilles de la Tourette follow-up study: a study on the long term development of GTS.

1) What is the long-term course of tics and comorbid OCD, ADHD and Quality of life in patients with GTS? 2) What are determinants of favourable versus unfavourable course?

Identifying genetic and metabolic risk factors for mild non-specific mental retardation and borderline intellectual functioning in parent offspring trios.

The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.

The RVCL-MRI study: neuroimaging findings and cerebrovascular reactivity in preclinical and clinical disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), in migraine patients and healthy controls.

1. To assess neuroimaging hallmarks of RVCL disease stages;2. To evaluate cerebrovascular reactivity as a biomarker of endothelial (dys)function in RVCL patients, in migraine patients and healthy controls;3. To identify shared pathophysiological…

Early neurological outcome of prenatally diagnosed ventriculomegaly at 20 weeks of gestation standardized ultrasound scan

Primary objective: To determine whether the short-term neurological outcome of surviving children diagnosed with prenatally diagnosed ventriculomegaly is associated with the extent of VM before birth.Second objective: To determine whether the…

A randomized controlled trial on the effects of periconceptional and prenatal folic acid supplementation on congenital anomalies and preterm birth

In the proposed study, two main issues will be addressed: first, it will be studied whether a high dose (4.0 mg) of FA supplementation periconceptional has an added value over the now recommended low dose of 0.4 mg in the prevention of congenital…

HCHWA-D a monogenetic model for intracerebral hemorrhage

The overall aim of this study is to investigate the pathophysiology of ICH by investigating intracerebral hemorrhage in HCHWA-D patients. By investigating triggers for ICH, hematoma expansion, recurrence rate and outcome in HCHWA-D related ICH we…

Structural and functional connectivity in relation to cognitive and social functioning of children with Neurofibromatosis Type 1

Our general objective is to find out whether impaired communication within networks of specific brain regions underlies the cognitive control- and social problems of individuals with NF1. It is very important to examine these relations in children…

EURAP and Development. A study on behavioral-, cognitive- and motordevelopment of children exposed to valproic acid in utero - a Dutch pilot study in anticipation of the international EURAP/NCEP study (European Register of Antiepileptic Drugs and Pregnancy / Neurocognitive Extension Protocol)

The objective of the study is two-fold:First, we want to improve the design of the study for future extension, by critical evaluation of the efficacy, the instruments used and the outcome measures. Second, we want to assess the cognitive and…

Modifiers in PMP22 related neuropathies

The objective is to determine the disease severity in genetically proven CMT1A/HNPP patients and to correlate this with sequence variants in CMT and immunity related genes. Identification of genotype-phenotype correlations in CMT1A will allow…

Creatine transporter defect in females.

1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.