Johannes R. M. Cruysberg

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OBJECTIVE To investigate the variable clinical picture of Möbius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder. METHODS A standardized questionnaire was submitted to 37 Dutch patients with Möbius syndrome. All underwent standardized neurologic examination with special attention to cranial nerve functions, motor(More)
Every year, 3000 women in the Netherlands are treated with in-vitro fertilisation (IVF), and results from studies suggest that the offspring of these women do not have a heightened risk of cancer. Between November, 2000, and February, 2002, we diagnosed retinoblastoma in five patients born after IVF. To calculate the relative risk of the disease, we assumed(More)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, was first described in the late seventies among French Canadians in the isolated Charlevoix-Saguenay region of Quebec.(More)
BACKGROUND Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis. A diagnosis of CTX should be considered in patients with premature bilateral cataracts, intractable diarrhea, neurological signs and symptoms, and tendon xanthomas, especially in the Achilles tendons. The prevalence of these signs and symptoms(More)
OBJECTIVE 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown. METHODS This is a study on 10 patients with 3-methylglutaconic aciduria type I. We present the clinical,(More)
PURPOSE To test the efficiency of a microarray chip as a diagnostic tool in a cohort of northwestern European patients with Leber congenital amaurosis (LCA) and to perform a genotype-phenotype analysis in patients in whom pathologic mutations were identified. METHODS DNAs from 58 patients with LCA were analyzed using a microarray chip containing(More)
We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3(More)
We studied two patients with a peculiar congenital disturbance of ocular motility in which the horizontal movements of the left eye were always opposite the normal expected direction. The common features were: (1) congenital monocular adduction palsy and exotropia of the left eye; (2) simultaneous abduction of both eyes (divergence) on attempted(More)