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Aad Verrips

Publications and source records attributed to Aad Verrips.

10 recordsLinked to original sources
PubMed2006

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS patients are characterized by congenital muscular dystrophy (CMD) with severe brain and eye abnormalities. This suggests a crucial role for alpha-DG during development of these organs and tissues. Here we report new POMT1 mutations and polymorphisms in WWS patients. In addition, we report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly, and mental retardation. Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases. In these patients we postulate that one or both transcripts for POMT1 confer residual protein O-mannosyltransferase activity. Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations.

Adolescent↗
PubMed2006

Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study.

We report a child with Satoyoshi syndrome manifested by involuntary painful muscle contractions and alopecia. Although an autoimmune origin of Satoyoshi syndrome seems likely, its exact etiology remains as yet unknown, as is the origin of the involuntary contractions. To gain a better understanding of the electrophysiological characteristics of the involuntary contractions, we performed a surface electromyographic (EMG) study. We investigated muscle contractions in the legs using two noninvasive techniques: high-density surface EMG (HD-sEMG) recordings on one muscle, and polymyographic surface EMG (sEMG) recordings on various muscles. During the involuntary contractions, HD-sEMG showed a fourfold increase in amplitude compared to maximal voluntary contractions. These high potentials were widely distributed across the whole muscle and showed a pronounced oscillatory behavior with a frequency around 45 Hz. Polymyographic sEMG revealed that the involuntary contractions often occur simultaneously in various muscles or showed a switch of activity from one muscle to another. These findings point to hyperactivity or a disinhibition at the alpha motor neuron level, originating probably at that level, although a central origin cannot be excluded. (c) 2006 Movement Disorder Society.

Alopecia↗
PubMed2006

Skeletal muscle ultrasonography: Visual versus quantitative evaluation.

In this study, we compared the sensitivity and specificity of visual versus quantitative evaluation of skeletal muscle ultrasound in children suspected of having a neuromuscular disorder (NMD). Ultrasonography (US) scans of four muscles (biceps brachii, forearm flexors, quadriceps femoris, anterior tibial muscle) were made in 76 children. All images were visually evaluated using the Heckmatt criteria and quantitatively evaluated with computer-assisted grey-scale analysis of muscle echo intensity. Visual evaluation could achieve a sensitivity up to 71%, with a specificity of 92%. With quantification, a sensitivity of 87% accompanied by a specificity of 67% was found, but other diagnostic values could be achieved, depending on the cut-off point. Quantification resulted in a higher interobserver agreement (kappa 0.86) compared with visual evaluation (kappa 0.53). We conclude that quantification of echo intensity is a more objective and accurate method. Because it can achieve higher sensitivities, it is better-suited for the screening task in the diagnostic phase of children with a NMD.

Adolescent↗
PubMed2005

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium-99m-ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the CYP27A1 gene: 1016 C > T (exon 5) on one allele and a novel mutation, 1435C > G (exon 8) on the other allele. A follow-up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared.

Dementia↗
PubMed2005

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.

PHACES is an acronym for a rare neurocutaneous disorder including the following features: posterior fossa brain malformations; facial hemangiomas; arterial, cardiac, and eye anomalies; and sternal clefts and/or supraumbilical abdominal raphe. Facial hemangiomas are the hallmark of this syndrome. We report a patient with facial hemangiomas, sternal clefting and carotid abnormalities. She is another example of the combined existence of sternal clefting and carotid abnormalities in PHACES syndrome and even more unique since she does not have an aortic abnormality. This report emphasizes that many different combinations of features may be seen in PHACES syndrome.

Abnormalities, Multiple↗
PubMed2004

Novel mutations in three patients with LGMD2C with phenotypic differences.

Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gamma-sarcoglycan encoding gene. This disease is characterized by childhood onset of progressive muscular dystrophy. Because of the clinical presentation, this disorder may be misdiagnosed as a dystrophinopathy. Two males (Patients A and B) from one Turkish family and one male (Patient C) from a Moroccan family had progressive walking disturbances for several years, exercise intolerance, and leg pains. Clinical examination revealed limb-girdle weakness and calf hypertrophy. Serum creatine kinase levels ranged from 1100 to 19000 U/L. The initial findings and course of the disease were less severe in Patient B compared with his brother (Patient A) at the same age. By means of immunohistochemistry on muscle biopsy all patients manifested reduced expression of alpha-, beta-, gamma-, and delta-sarcoglycans. DNA sequence analysis revealed a homozygous splice site mutation in exon 5 (IVS5+2T>C) in the Turkish family. In the patient from the Moroccan family a homozygous nonsense mutation in exon 2 (93G>A;Trp31X) was present. In conclusion, this report describes the clinical, histologic, and immunohistochemical characteristics of three children with limb-girdle muscular dystrophy type 2C. Two novel mutations in the gamma-sarcoglycan gene were present. We found phenotypic differences in two brothers.

Biopsy↗
PubMed2002

Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal capsule, corpus callosum, brainstem, and cerebellar white matter, demonstrated no abnormalities, whereas the periventricular and subcortical white matter, which were myelinated in the first postnatal year, demonstrated signs of leukoencephalopathy. Cerebrospinal fluid analysis revealed an elevated albumin cerebrospinal fluid to serum ratio in the younger children. Electroencephalogram results were abnormal in the two elder children. One child suffered from congestive cardiomyopathy. The increase in nerve conduction velocity in these children over the years lagged behind those of healthy patients, pointing to a demyelinating neuropathy. We conclude that in merosin-negative congenital muscular dystrophy patients, nonmuscular involvement includes the central and peripheral nervous system and the heart. The pattern of myelination of the brain and nerve conduction slowing suggests a myelination arrest. Merosin deficiency can give rise to a congestive cardiomyopathy, which is of no clinical relevance in the majority of children.

Adult↗
PubMedDate not supplied

Severe tacrolimus leukoencephalopathy after liver transplantation.

Tacrolimus is an immunosuppressive agent that can show a wide variety of neurologic side effects, including leukoencephalopathy. Although the prognosis is good-after cessation or dose reduction, complete recovery usually occurs-the differentiation with treatable diseases such as progressive multifocal encephalopathy can be difficult, making a stereotactic biopsy of the white matter lesion sometimes necessary. We describe the case of a 12-year-old girl with a severe, reversible tacrolimus-related leukoencephalopathy and only mild histopathologic abnormalities.

Child↗