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Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally produces a 48-kDa polypeptide of unknown function. To help characterize the CLN3 protein, we have studied its tissue distribution and subcellular localization in human tissues using three(More)
KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. Here, we report 11 heterozygous de novo missense mutations (p.S58L, p.T99M, p.G102D, p.V144F, p.R167C, p.A202P, p.S215R,(More)
We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethality. Analysis of ALG11 revealed compound heterozygosity(More)
A case of broncholithiasis in a child is reported. To our knowledge, it has not been reported in children. Broncholithiasis is a condition in which a peribronchial calcified lymph node erodes into or distorts an adjacent bronchus. Symptoms of broncholithiasis include cough, recurrent episodes of fever, haemoptysis, and purulent sputum. The most common cause(More)
UNLABELLED MEPs and CMAPs as prognostic tools for spina bifida. AIM The aim of this prospective study was to determine the prognostic value of neurophysiological investigations compared to clinical neurological examination in infants with spina bifida. METHODS Thirty-six neonates born with spina bifida between 2002 and 2007 were evaluated and followed(More)
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder,(More)
Neuraminidase deficiency (mucolipidosis I, sialidosis types I and II, cherry-red spot myoclonus syndrome) is a lysosomal storage disorder with an expanding clinical phenotype. Here, we report the striking diagnostic history of late-onset neuraminidase deficiency in two sisters, currently aged 14 (patient 1) and 15 (patient 2).Patient 1 was referred for(More)
OBJECTIVE The aim of this prospective study was to assess the prognostic value of electroencephalography in infants born with spina bifida.31 infants with spina bifida born between 2002 and 2007 at the Radboud Nijmegen University Medical Centre were evaluated and followed for 2½ years. Electroencephalography (EEG) was performed during the first 8 weeks(More)
We aimed to disentangle the proportional contributions of upper and lower motor neuron dysfunction to motor impairment in children with spina bifida. We enrolled 42 children (mean age, 11.2 years; standard deviation, 2.8 years) with spina bifida and 36 control children (mean age, 11.4 years; standard deviation, 2.6 years). Motor impairment was graded to(More)