Johannes R. M. Cruysberg

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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)
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)
OBJECTIVE To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome. DESIGN Case series. SETTING Tertiary referral center. BACKGROUND The NOG gene encodes the protein noggin, which has antagonist action in osteogenesis. Malformation of bones and joints may result from(More)
BACKGROUND Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). OBJECTIVE Retroflexion of the head is a well known compensatory mechanism for ptosis, but generally retroflexion has a negative effect on swallowing. We hypothesised that severity of ptosis is related to degree of retroflexion and that this compensation is(More)
We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is discussed.
A 59-year-old-man visited the neurological outpatient clinic because of a leftward rotation of his head for the last 8 months. This head deviation turned out to represent a compensatory mechanism to alleviate diplopia that resulted from an abduction restriction of his left eye. By turning his head into the direction of the weak left lateral rectus muscle,(More)