
Johanna Maria FockUniversity of Groningen | RUG · Department of Developmental Neurology
Johanna Maria Fock
childneurologist
About
121
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Introduction
Publications
Publications (121)
BACKGROUND
The introduction of proton radiotherapy in the Netherlands resulted in the centralization of proton craniospinal irradiation (pCSI) for patients with medulloblastoma (MB) to a single center. For optimal outcome of MB patients, timely start of pCSI and treatment without interruptions is important. However, national-scale referrals and the...
Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndrome have been proposed: agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation...
Background:
The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functions as a membrane-protein chaperone. Variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration. Multiple families with biallelic variants have been published, yet to date, only a...
Introduction:
Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfunction (BBD) in DMD patients compared with healthy controls (HC).
Methods:
The Childhood Bladder and...
Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at the neuromuscular junction. Recently, dominant missense variants in SYT2 have been reported as a rare cause of distal motor...
Background:
The annual number of paediatric injury-related emergency visits and application of computed tomography (CT) has substantially increased, with associated higher risk of malignancies. In 2010, a guideline for CT-assessment based on risk factors for patients with mild traumatic brain injury (mTBI) became effective in all Emergency Departm...
Objective:
To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3.
Methods:
Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing.
Resu...
Background:
Annually 14.000 children with traumatic brain injury (TBI) are admitted to the Emergency Department (ED) in the Netherlands. Presentation varies and a specific entity comprises the juvenile head trauma syndrome (JHTS) with secondary deterioration after a mild trauma. As outcome of JHTS can be fatal, early recognition is essential.
Aim...
Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and intracranial clear cell meningiomas (CCMs) in young patients. Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance...
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white mat...
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge as many patients remain without genetic diagnosis. Using MRI pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in four patients with hypomyelination. Clinical features included severe spasticity and nysta...
Background:
Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation.
Objective:
To present a detailed population based report of the DMD disease course in T...
Peroxisomes are organelles that proliferate continuously and play an indispensable role in human metabolism. Consequently, peroxisomal gene defects can cause multiple, often severe disorders, including the peroxisome biogenesis disorders. Currently, 13 different PEX proteins have been implicated in various stages of peroxisome assembly and protein...
Benign neonatal sleep myoclonus (BNSM) is characterized by 1) neonatal onset, 2) myoclonic jerks occurring only during sleep, 3) abrupt and consistent cessation of jerks with arousal, 4) absence of electroencephalographic seizures, and 5) good outcome.(1) The estimated incidence varies between 0.8 and 3.0 cases per 1,000 births.(2) Procedures like...
Our goal was to validate the hypothesis that the lumbosacral angle (LSA) increases in children with spinal dysraphism who present with progressive symptoms and signs of tethered cord syndrome (TCS), and if so, to determine for which different types and/or levels the LSA would be a valid indicator of progressive TCS. Moreover, we studied the influen...
Hypothermia can reduce seizure frequency in animal models of status epilepticus, and its effectiveness in human status epilepticus has been reported occasionally. We report an infant with hemimegalencephaly who presented with generalized status epilepticus. After high dose intravenous drug therapy, this converted to focal status epilepticus in the...
Het syndroom van West of salaamepilepsie is een relatief zeldzaam epilepsiesyndroom dat optreedt in het eerste levensjaar. Na het stellen van de diagnose dient specifieke medicamenteuze behandeling te worden gestart in verband met de relatieve ongevoeligheid voor conventionele anti-epileptica. Op dit moment bestaat geen eenstemmigheid over welk mid...
West syndrome or infantile spasms is a relatively uncommon epilepsy syndrome of early infancy. It requires prompt and specific treatment because of its negative effect on mental development and its relative non-responsiveness to regular anti-epileptic drugs. Until now, no single primary treatment exists. For a long time, ACTH was the drug of first...
To find out which patients with Duchenne muscular dystrophy are eligible for starting home mechanical ventilation and what the survival rate is.
Retrospective.
In 48 patients with Duchenne muscular dystrophy who were treated with home ventilation from 1987, the results were assessed in the follow-up visit in February 2005. Initially, ventilation wa...
Because it is debatable whether seat surface inclination improves motor function in children with cerebral palsy (CP), the effect of seat surface tilting on postural control and quality of reaching was studied.
The subjects were 58 children with CP aged 2 to 11 years (34 with unilateral spastic CP, 24 with bilateral spastic CP).
During the task of...
Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coefficient (ADC) in the white matt...
Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome. A novel 3-bp deletion encompassing the nucleotides GAG at positions 1,142 to 1,144 of exon 5 of the PANK2 gene was found in all patients. One patient was compound heterozyg...
The relationships between kinematic characteristics of sitting posture during reaching movements of the dominant arm and 1) the kinematics of the reaching movement itself and 2) functional performance during daily life activities (PEDI) were assessed in 51 sitting preterm children with cerebral palsy (CP). The children were 2-11 y, 33 had spastic h...
Kinematic characteristics of reaching movements of the dominant arm were assessed in 51 sitting preterm children who were aged 2-11 y and had cerebral palsy (CP), including 33 with spastic hemiplegia and 18 with bilateral CP (Bi-CP). Reference data of 29 typically developing children were present. The results indicated that the quality of reaching...
Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clos...
Neuromuscular disorders are characterised by progressive muscle weakness, which in time causes functional impairment. To quantify the extent of disease progression, muscle force and functional ability can be measured. Which of these parameters changes most depends on the disease stage. In a previous study, we reported normal values for muscle force...
Prednisone treatment is used to prolong ambulation in patients with Duchenne muscular dystrophy (DMD). However, since severe adverse effects often accompany prednisone treatment, it is debatable whether the benefits of prednisone treatment outweigh its adverse effects.
To study the effects of prednisone on muscle function and to determine the exten...
In this study, 105 healthy children (45 to 156 months old, 57 girls) were examined using ultrasound (US) imaging to obtain reference values of muscle dimensional and aspect parameters. We measured biceps and quadriceps sizes and subcutaneous tissue thickness. To quantify muscle aspect, we calculated muscle density, inhomogeneity and white-area inde...
Amplitude-integrated EEG (aEEG) is used to select patients for neuroprotective therapy after perinatal asphyxia because of its prognostic accuracy within several hours after birth. We aimed to determine the natural course of aEEG patterns during the first 72 h of life, in relation to neurologic outcome, in a group of severely asphyxiated term infan...
Postural control during reaching with the dominant arm was assessed in 58 preterm children with cerebral palsy (CP) aged 2 to 11 years, comprising 34 with spastic hemiplegia (17 males, 17 females) and 24 with bilateral spastic CP (bilateral CP; 15 male, 9 females). Assessments were made by multiple surface electromyogram (EMG) and kinematic recordi...