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At least 703 records · Page 39Linked to original sources
PubMed1997

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.

The survival motor neuron (SMN) gene is the putative disease gene for human spinal muscular atrophy (SMA), an autosomal recessive disorder characterized by progressive degeneration of lower motor neurons. Two copies of the gene, centromeric and telomeric, are present in the same 5q13 chromosomal region in humans. However, only the telomeric gene is affected in SMA. The SMN gene(s) encode(s) a novel protein of unknown function. To gain insights into the role of SMN in neurons, we have identified the SMN gene ortholog in the rat, and investigated SMN expression in the CNS of rat, monkey and humans by immunocytochemistry and in situ hybridization experiments. Antibodies against the SMN amino-terminus specifically recognized a single protein identical to the in vitro translation products of human and rat SMN cDNAs. The SMN gene transcript and product were widely but unevenly expressed throughout cerebral and spinal cord areas. The SMN protein was localized mainly in the cytoplasm of specific neuronal systems, and it was particularly expressed in lower motor neurons of newborn and adult animals. Likewise, a strong hybridization signal was detected in lamina IX of the spinal ventral horn. These results support the relevance of SMN for the motor neuron function and the pathogenetic role of the SMN gene in the neuronal degeneration associated with SMA.

Amino Acid Sequence↗
PubMed2001

Amniocentesis and amnioinfusion during pregnancy. Report of four complicated cases.

We report two foetal complications after amnioinfusion with dye injection for evaluation of severe oligohydramnios in pregnancy. In the first case, an underskin colouring was to disappear within a few days. In the second case, an irreversible skin after-effect with muscular atrophy and lesion of the underskin tissues developed progressively, although the trained practitioner did not notice any particular resistance during the injection of the dye and the ultrasonographer did not point out that the foetus had been stuck by the needle. Both later reported cases concern two life threatening maternal complications due to amniocentesis for foetal karyotyping indicated by maternal age, a septic shock occurred 24h after entering the amniotic cavity, leading to a long stay in intensive care units. In one of those cases, the patient recovered from a cardiac arrest. We come to the conclusion that the essential continuous ultrasonographic monitoring cannot avoid all complications, some of which may lead to severe adverse foetal effects and others may need an intensive medical care for the mother, mainly after iatrogenic chorioamnionitis. Experience of the perinatologist remains an important factor to limit the complications without avoiding them completely. The indications must be carefully evaluated, the information given to the patients must be clear and in the future, intraamniotic injections of dyes will have to be avoided and replaced by non-invasive tests for diagnosis of preterm premature rupture of membranes, such as diamine-oxidase, foetal fibronectin or PROM-tests. The rules of a good practice will have to be defined and widely spread.

Adult↗
PubMed2004

Progressive and selective degeneration of motoneurons in a mouse model of SMA.

Spinal muscular atrophy (SMA), an autosomal recessive disorder characterized by the degeneration of motoneurons of the spinal cord and brainstem, results from loss-of-function mutations in the survival motor neuron gene (smn). The goal of these experiments was to analyse axons and cell bodies of motoneurons in different regions of the CNS during disease progression in a mouse model of SMA carrying a deletion of the exon 7 directed to neurons. These experiments demonstrate a progressive loss of motor axons and of motoneurons in the CNS. This is the first study that describes a selective neurodegeneration in this line of mice and underlines the importance of exon 7 in some populations of motoneurons for survival in vivo.

Animals↗
PubMed1995

[Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD)].

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder which is characterized by progressive weakness and atrophy of the facial, shoulder-girdle and upper arm muscles, and occasional subsequent pelvic-girdle and lower limb involvement. The gene responsible for FSHD has been localized to chromosome 4q35-qter, although a few 4q-unlinked families are known. To examine FSHD-associated DNA rearrangements in the Japanese population, we performed Southern blot analysis of the genomic DNA, using the p13E-11 and pFR-1 probes. Most of the Japanese FSHD patients (> 95%) had specific smaller (< 28 kb) EcoRI fragments which cosegregated with the disease. Restriction enzyme maps of the polymorphic EcoRI fragment detected by the probes have revealed that the disease occurs due to a deletion of the integral numbers of the 3.3kb KpnI tandemly repeated fragments (D4Z4) which contain homeobox-like sequences. Indeed, we cloned and characterized the FSHD-associated EcoRI fragments (the shortest fragment identified to date: 10kb) from two severely affected patients (unrelated). The 10kb fragment were identical and contained only one 3.3kb KpnI repeat unit. Although we still do not know whether truncation deletion of the D4Z4 region could produce FSHD directly or indirectly (position effect), we now beginning to understand FSHD. In the next step, FSHD gene products (mRNA and protein) responsible for the disease should be investigated.

Chromosomes, Human, Pair 4↗
PubMedDate not supplied

Morphometric approaches to perifascicular atrophy in muscle biopsy: do they help to diagnose polymyositis?

The sizes of muscle fibres in the peripheral and central parts of fascicles were compared in biopsies from patients with polymyositis/dermatomyositis, patients with slowly progressing muscular dystrophies and normal controls. Of three quantitative parameters tested, perifascicular atrophy factor gave the best discrimination between the patient groups. This factor is obtained by subtracting the atrophy factor of the peripheral fibres from that of the central ones. In polymyositis, the values tend to be negative as a result of atrophy affecting selectively the peripheral fibres, whereas in dystrophies the values are usually close to zero or positive. For the comparison between polymyositis and muscular dystrophy, the test based on perifascicular atrophy factor has an estimated sensitivity of 83% and a specificity of 65%. This quantitative method is thus able to increase sensitivity of the diagnosis of polymyositis over that attained by the subjective evaluation, even at the cost of a sizeable false-positive rate.

Adolescent↗
PubMed1999

Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, invariably lethal disease resulting from the premature death of motor neurons of the motor cortex, brainstem, and spinal cord. In approximately 15% of familial ALS cases, the copper/zinc superoxide dismutase gene is mutated; a juvenile form of familial ALS has been linked to chromosome 2. No cause has been identified in the remaining familial ALS cases or in sporadic cases and the selective neurodegenerative mechanism remains unknown. Deletions in 2 genes on chromosome 5q, SMN (survival motor neuron gene) and NAIP (neuronal apoptosis inhibitory protein gene), have been identified in spinal muscular atrophy, a disease also characterized by the loss of motor neurons. These genes are implicated in the regulation of apoptosis, a mechanism that may explain the cell loss found in the brains and spinal cords of patients with ALS. OBJECTIVE: To determine whether the mutations causing neurodegeneration in spinal muscular atrophy are present in patients with ALS in whom the copper/zinc superoxide dismutase gene is not mutated. PATIENTS AND METHODS: Patients in whom ALS was diagnosed were screened for mutations in the SMN and NAIP genes by single strand conformation analysis. RESULTS: We found 1 patient with an exon 7 deletion in the SMN gene; review of clinical status confirmed the molecular diagnosis of spinal muscular atrophy. No mutations were found in the remaining patients. CONCLUSION: The SMN and NAIP gene mutations are specific for spinal muscular atrophy and do not predispose individuals to ALS.

Amyotrophic Lateral Sclerosis↗
PubMed1999

Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population.

In apparently healthy, unrelated Hungarians we examined triplet repeat length polymorphism at Huntington disease (HD), spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA-1), dentatorubral-pallidoluysian atrophy (DRPLA), and myotonic dystrophy (MD) loci. The distribution of alleles of the SCA-1 locus was markedly different compared with Asians and Caucasian samples examined by Watkins WS, Bamshad M, and Jorde LB [1995: Hum Mol Genet 4:1485-1491]. The unimodal distribution of peaks was shifted towards the shorter repeats on the average with 4-5 repeats. Alleles under 21 repeats at the SBMA locus were significantly less frequent in Hungarians than in Asians and Caucasians. We also found significant difference in the distribution of DRPLA allele size at repeat length over 15 repeats; these alleles were less frequent in Hungarians compared with Asians and Caucasians. No significant differences were found in alleles at the MD and also at the HD loci compared with the other groups. These findings suggest that these trinucleotide sites in combination with other markers are particularly useful for determination of the genetic origin of a population, if they can be compared with similar subset of data of other populations. The present results could not confirm the large genetic distance between Hungarian and Oriental races and the relatively short distance between Hungarian and other European populations suggested in earlier reports [Czeizel A, Benkmann H-G, Goedde HW, editors. 1991: Genetics of the Hungarian population. Budapest: Akadémiai Kiadó. p 82-334].

Alleles↗
PubMed1992

Myasthenia gravis and steroid-induced myopathy of the respiratory muscles.

OBJECTIVE: We report a case of corticosteroid-induced myopathy with involvement of respiratory muscles observed in a myasthenic patient. PATIENT: A 37-years-old woman, under corticosteroid treatment for two years for typical myasthenia gravis was admitted to ICU for acute myasthenic respiratory failure. Weaning from mechanical ventilation remained impossible despite 4 plasma exchanges and azathioprine. The patient exhibited a progressive 12 kg weight loss with muscular weakness and atrophy. MEASUREMENTS AND RESULTS: Peripheral and diaphragmatic electromyography as well as histological study were consistent with a steroid-induced myopathy. Discontinuation of corticosteroid treatment was followed by a rapid weight gain with general improvement and allowed weaning from mechanical ventilation with a complete recovery. CONCLUSION: This case provides evidence that corticosteroid-induced myopathy may be observed in myasthenia gravis and may involve the respiratory muscles as well as the peripheral musculature.

Adrenal Cortex Hormones↗
PubMed1998

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.

Desminopathies form a heterogeneous group of myopathies characterised by pathological aggregations of desmin. We report a family, where mother and daughter presented with an atrioventricular block and a slowly progressive distal muscular weakness, with non-homogeneous focal atrophy on computed tomography scans. The mother developed a severe global heart insufficiency necessitating a heart transplantation at 56 years of age. Skeletal muscle biopsies were characterised by inclusion bodies strongly expressing desmin and alpha B-crystallin, with a predominantly subsarcolemmal localisation. Ultrastructurally most inclusions corresponded to non-membrane bound granulo-filamentous material with disruption of myofibrils. An immunoblot showed a hyperintense desmin band at 53 kDa and a second band at 49 kDa, the latter being absent in controls. The cardiac muscle of the explanted heart showed very similar inclusions. These cases illustrate that in this distinct subtype of desminopathies the cardiac muscle alterations are comparable with those observed in skeletal muscle, and suggest the possibility of a primary desmin pathology.

Adult↗