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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 109 records · Page 6Linked to original sources
PubMed1991

X-linked centronuclear myopathy: mapping the gene to Xq28.

The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized hypotonia, muscle weakness and primary asphyxia, has recently been mapped to Xq28. This report presents linkage analysis data of eight families with X-linked centronuclear myopathy. Four probes from the region Xq26-27 and five Xq28 probes were used to get more precise gene localization and marker order. St14 (DXS52), fully informative in all families, shows significant linkage to the CNM gene (z = 3.60; theta = 0.05), followed by DX13 (DXS15) (z = 2.03; theta = 0.06) and F8 (z = 1.86; theta = 0.00). Combination of the physical map derived by Kenwrick and Gitschier (1989) and our linkage data lead to the most probable order R/GCP-G6PD-(XLR-CNM-F8)-p767-St14-cpX67-++ +DX13 placing the CNM gene close to F8. The results of this study confirm strong linkage of the CNM gene to the region Xq28 and will permit carrier testing and prenatal diagnosis in CNM families. We conclude that the precise localization of this devastating disorder may be of great importance for genetic counselling in families at risk. The lack of information about gene frequency and mutation rate as well as the severity and burden of the disease point to the inevitable need for accurate clinical diagnosis.

Chromosome Mapping↗
PubMed1991

Traumatic spinal cord injury: unusual recovery in 3 children.

We report on 3 children with traumatic spinal cord injury. All of them had normal x-rays of the vertebral column. There were no abnormalities of the spinal cord in myelography or magnetic resonance imaging. Although these situations are often associated with a poor neurological prognosis, we observed very unusual recoveries in these 3 cases.

Child↗
PubMed1991

Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy.

Three children, one pair of siblings and a sporadic case, with "infantile (familial) encephalopathy with cerebral calcification and leukodystrophy" are reported. Neuroimaging studies demonstrated extensive bilateral calcifications particularly in paraventricular location and within the cerebral white matter. MRI, performed in two infants, confirmed marked white matter involvement with diffuse delay of myelination. This condition can be added to the growing list of leukodystrophies.

Brain↗
PubMed1991

Contribution of magnetic resonance imaging in the evaluation of microcephaly.

Magnetic resonance imaging (MRI) was performed in 33 children using a 2,35 T MR system. The intention was to determine the various types of morphological abnormalities seen in primary microcephaly and the frequency with which they occur. MRI findings were typical for cytomegalovirus infection in six patients. Cerebral malformations were found in 14 cases and patchy white matter lesions in both hemispheres in two subjects. MRI appeared to be abnormal in eight of the remaining 11 children. However, we were unable to provide an exact interpretation of the findings. All the children with MRI abnormalities with the exception of two were neurodevelopmentally deviant. Thus, MRI revealed abnormalities in the majority of infants with primary microcephaly and neurodevelopmental disturbances. It appears to be more sensitive than cranial ultrasound and computed tomography.

Brain↗
PubMed1990

Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure.

This 6-year-old girl was admitted with insufficient involuntary breathing and generalized hypotonia. T2-weighted MR images showed bilateral symmetrical tubular hyperintense lesions in the medio-caudal part of the medulla oblongata that correlated well with demyelination and gliosis in the regions of the reticular formation and the nucleus solitarius found at autopsy. The typical lesions of Leigh's disease in the basal ganglia were not present, which made the diagnosis uncertain prior to the histopathological findings. MRI was very helpful in deciding on further management of the patient.

Brain Diseases, Metabolic↗
PubMed1990

Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.

The infantile and classic forms of phytanic acid storage disease belong to the newly recognized group of peroxisomal disorders. In this paper we report the full clinical, morphological and biochemical results in a patient with infantile phytanic acid storage disease. The results indicate a generalized loss of peroxisomal functions due to a deficiency of peroxisomes as demonstrated in hepatocytes and cultured skin fibroblasts.

Acyl Coenzyme A↗
PubMed1990

A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.

A group of inherited neurological disorders are the X-chromosome linked dysmyelinoses, in which myelin membranes of the CNS are missing or perturbed due to a strongly reduced number of differentiated oligodendrocytes. In animal dysmyelinoses (jimpy mouse, msd-mouse, md rat, shaking pup) mutations of the main integral myelin membrane protein, proteolipid protein, have been identified. Pelizaeus-Merzbacher disease (PMD) or sudanophilic leucodystrophy is an X-linked dysmyelinosis in humans. We report here on the molecular basis of the defect of affected males of a PMD kindred. Rearrangements of the PLP gene were excluded by Southern blot hybridisation analysis and PCR amplification of overlapping domains of the PLP gene. Sequence analysis revealed one single C----T transition in exon IV, which leads to a threonine----isoleucine substitution within a hydrophobic intramembrane domain. The impact of this amino-acid exchange on the structure of PLP in the affected cis membrane domain is discussed. A space filling model of this domain suggests a tight packing of the alpha-helices of the loop which is perturbed by the amino-acid substitution in this PMD exon IV mutant. The C----T transition in exon IV abolishes a Hph I restriction site. This mutation at the recognition site for Hph I (RFLP) and allele-specific primers have been used for mutation screening the PMD kindred.

Base Sequence↗
PubMed1989

[Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)].

We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery. NF-2 is frequently accompanied by additional intracranial tumors (particularly multiple meningiomas). Half of our patients had a spinal space-occupying lesion. NF-2 is inherited as an autosomal dominant trait, and many patients appear to represent new mutations.

Adolescent↗
PubMed1989

[Long-term course in congenital analgesia].

We describe the longterm history of eight patients with congenital insensitivity to pain, a rare autosomal recessive condition. Pain perception did not significantly improve with increasing age, but all affected individuals learned to live with their handicap. A marked tendency to dissimulate was obvious. The longterm outcome was dominated by orthopedic complications: there were impressive arthropathic changes in knee and ankle joints but - to our surprise - no hip joint involvement. These changes are the result of skeletal injuries in childhood (fractures, aseptic bone necrosis, osteomyelitis) and of apparently progressive neuropathic lesions due to pain insensitivity. The latter resulted in marked lumbar spine changes with progressive neurological deterioration, so far requiring spondylodesis in three patients. In three pregnant women total absence of labour pain was observed. All affected individuals had anosmia but no deficits of autonomic nervous system functions.

Adult↗
PubMed1989

Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.

A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz-Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.

Adult↗
PubMed1989

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

DNA from 80 Duchenne (DMD) and 15 Becker (BMD) index patients was analyzed with 12 genomic probes and the total cDNA. Deletions were detected in 24 DMD (30%) and 10 BMD patients (67%) by genomic probes alone, mostly p20, pXJ, and/or pERT87. All deletions were confirmed by cDNA probes, and an additional 29 DMD deletions were detected, resulting in a total of 63/95 deletions (66%). The majority of the deletions are localized between kb 6.7 and 9.7 of the cDNA; a smaller group, between kb 0.5 and 3.5. Of the deletions, 90% are detected by the three cDNA probes 1-2a, 7, and 8. This can be applied to strategies for carrier detection and prenatal diagnosis. The order of 13 exon-containing HindIII fragments in the region between probes 7 and 9-10, where most of the deletions are found, could be defined. The deletion patterns in DMD and BMD patients are different and well in accordance with the "reading frame theory" of Monaco and coworkers. Thus our findings indicate that a DMD or BMD phenotype may be predicted according to the breakpoint position and the number of deleted exons.

Chromosome Deletion↗
PubMed1989

MRI in Cockayne syndrome type I.

MRI findings are reported from two patients with Cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.

Adult↗
PubMed1989

Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?

We describe a 10-year-old boy with hyperprolinaemia type I and severe neurological abnormalities (mental retardation, cerebral palsy, epilepsy, nystagmus). Magnetic resonance imaging showed diffuse white matter involvement and electroretinography confirmed tapetoretinal degeneration. In view of reports in the literature, hyperprolinaemia type I may not be a benign condition, as usually assumed, but may lead to marked neurological abnormalities, particularly in affected males.

Brain Diseases↗
PubMed1989

Magnetic resonance imaging of the brain in congenital cytomegalovirus infection.

Ten children (age 2 months to 8 years) with a congenital cytomegalovirus (CMV) infection were studied by magnetic resonance imaging (MRI) using a 2.35 Tesla magnet. CMV infection was confirmed by serological investigations and virus culture in the neonatal period. Nine children had severe mental retardation and cerebral palsy, 1 patient suffered from microcephaly, ataxia and deafness. The cranial MRI examination showed the following abnormalities (N): dilated lateral ventricles (10) and subarachnoid space (8), oligo/pachygyria (8), delayed/pathological myelination (7), paraventricular cysts (6), intracerebral calcification (1). This lack of sensitivity for calcification is explainable by the basic principles of MRI. The paraventricular cystic lesions were adjacent to the occipital horns of the lateral ventricles and separated only by a thin membrane. This finding might represent a "new sign" for congenital CMV infection in MRI examinations, being characteristic but nevertheless nonspecific, like calcification in CT.

Brain↗
PubMed1989

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the classification of this dominant disorder with the spinal muscular atrophies is justified will depend on additional studies in further families.

Acoustic Impedance Tests↗
PubMed1989

Intracranial abnormalities associated with facial plexiform neurofibromas in neurofibromatosis type 1.

From 1975 to 1988 seventeen patients with neurofibromatosis type 1 and a disfiguring facial plexiform neurofibroma (FPN) were investigated. The FPN was left-sided in 13 patients. It was orbital/periorbital in 4, lower facial in 7 and involved the whole face in 6 subjects. Neuroimaging (n = 13) revealed a tumor (of optic pathways or basal ganglia) in 8, an ipsilateral middle cranial fossa arachnoid cyst in 2, multiple areas of high signal intensity (in T2-weighted magnetic resonance imaging) in 1, and normal findings in 2 patients. In NF-1 patients with FPN there seems to be a high incidence of intracranial tumors and possibly of arachnoid cysts. Our observation has to be confirmed in a larger patient series.

Adolescent↗