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Results for “PROGRESSIVE MUSCULAR ATROPHY”

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At least 451 records · Page 25Linked to original sources
PubMed1999

[Molecular mechanism of ALS and a possible gene therapy].

We report clinical characteristics of familial amyotrophic lateral sclerosis (FALS) with four different missense point mutations in exons 1, 2, 4, and 5 of the Cu/Zn superoxide dismutase (SOD) gene, that result in amino acid substitutions of cysteine 6 by phenylalanin (C 6 F), histidine 46 by arginine (H46R), leucine 84 by valine (L84V), isoleucine 104 by phenylalanine (I104F), and valine 148 by isoleucine (V148I), in five Japanese families. Although features of progressive neurogenic muscular atrophy was common in patients of these families, patients of each family showed characteristic clinical features. Immunoreactivity for Cu/Zn SOD of the motor neurons was not different between the ALS and controls. In contrast, immunoreactivity for NT was densely detected in motor neurons of ALS while that was not or was only minimally detected in those of controls. Adenovirus-mediated E. coli LacZ gene was transferred and expressed both in the muscle and spinal cord of transgenic mice. These results suggest that familial ALS with different mutations of the Cu/Zn SOD gene showed each clinical characteristics, that nitration of protein-tyrosine residue is upregulated in motor neurons of the spinal cord of ALS, and that there could be a possible future therapy of ALS with exogenous gene transfer.

Amyotrophic Lateral Sclerosis↗
PubMed2000

[Autosomal recessive chorea-acanthocytosis linked to 9q21].

A 34-year-old male, son of consanguineous parents, had a progressive neurological illness characterized by seizures, tics, choreic movements and mood changes. Acanthocytosis was present in blood. The level of creatine kinase was elevated. Normobetalipoproteinemia was noted. No KX group changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. Muscular biopsy confirmed the existence of non-specific myopathy. Genetic study demonstrated homozigosity for the 9q21 region.

Adult↗
PubMed1998

[Genetic study of the autosomal recessive form of Charcot-Marie-Tooth in an Algerian family].

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy characterized by muscular atrophy and progressive sensitive alterations that affect limbs. The CMT is one of the most heterogenous diseases, clinically as well as genetically. At least twelve loci are responsible for the CMT phenotype, four of them for the autosomal recessive form. The aim of our work was to determinate the implication/exclusion of these four loci in an Algerian family by linkage analysis using microsatellites markers. We have tested the four loci on 8q13-21.1 (CMT4A), 11q23 (CMT4B), 5q23-33 (CMT4C) 8q24 (CMTAR). The haplotype reconstruction allowed us to exclude all the loci in this family, suggesting that the locus (gene) responsible for this form of CMT is localized elsewhere in the genome, thus providing an other observation of the great heterogeneity of the CMT, particularly autosomal recessive.

Algeria↗
PubMed2000

[A patient with motor neuron syndrome clinically similar to amyotrophic lateral sclerosis, presenting spontaneous recovery].

We report a patient with motor neuron syndrome similar to amyotrophic lateral sclerosis (ALS) and with spontaneous recovery. At the age 40, the woman developed progressive muscular weakness, atrophy and fasciculation in extremities. She also noted a dyspnea, tongue atrophy and dysphagia. A neurological examination 6 months after onset revealed i) a tongue atrophy and fasciculation, ii) diffuse muscule weakness and atrophy in face, neck and extremities, and iii) marked hyperreflexia in the four limbs and bilateral Babinski reflex, but iv) neither sensory disturbance nor ophthalmoplegia. Electromyogram (EMG) detected such denervation potentials as fibrillation potentials, fasciculation potentials, positive sharp waves and polyphasic or giant MUPs diffusely in the limb muscles. Peripheral nerve conduction study detected neither conduction block nor delay. Thus, she was diagnosed as suffering from ALS. However, since approximate 1 year after onset, her muscle weakness has gradually been getting better. Simultaneously, the dyspnea and dysphagia gradually improved. Two years after onset, an EMG examination detected chronic denervation potentials in the left musculus sternocleidomastoideus and a few on-going denervation potentials in the left musculus extensor carpi radialis, but no denervation potentials in other limb muscles. Fasciculation potentials were found in tongue muscles. Thus, the present case was thought to have a reversible motor neuron syndrome clinically quite similar to ALS. A mild increase in IgE (346 U/ml) and a low-titer IgM-class anti-GM1 antibody were found in her serum though its pathological significance was uncertain. Any immunological aberrance may account for the pathogenesis. It should be noted that clinically diagnosed cases of ALS may rarely recover spontaneously.

Adult↗
PubMed1992

Androgen receptor mutants that affect normal growth and development.

The elucidation of the molecular structure of the human androgen receptor has facilitated the study of molecular defects associated with androgen insensitivity. In this overview, data are presented on the functional domain structure of the wild type human androgen receptor and on the molecular structure of the androgen receptor from different subjects with the complete form of androgen insensitivity. Mutational domain analysis of the human androgen receptor has revealed that a large carboxyterminal region constitutes the hormone binding domain and that DNA binding is associated with a central basic domain. In addition, separate domains that control trans-activation and nuclear translocation have been identified. Reports on androgen receptor gene structure in individuals with the complete and incomplete forms of androgen insensitivity indicate that gross deletions within the androgen receptor gene are uncommon. The locations of the different point mutations reported cannot be assigned to a single site but are spread throughout the ligand binding and DNA binding domains. A point mutation found in the ligand binding domain of the human androgen receptor in a prostate tumour cell line is the cause of the altered steroid binding specificity observed for the androgen receptor in these prostate tumour cells. A considerable variation in the length of one of the polyglutamine repeats has been reported in the aminoterminal transcription regulating domain of the wild type androgen receptor. Doubling of the length of this particular polyglutamine stretch is correlated with a progressive spinal/bulbar muscular atrophy in a small group of middle aged men.

Amino Acid Sequence↗
PubMed2003

Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.

The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and now considered to be a modifying factor of the severity of SMA. Our previous study of five Vietnamese SMA patients showed that the SMN1 gene deletion was detected in one patient, although the NAIP gene deletion was not detected in any patients. In this study, we analyzed 12 Vietnamese SMA patients who were not enrolled in the previous study. The SMN1 gene was homozygously deleted in six out of 12 patients, and the NAIP gene deletion was detected in five patients. Taken together with our previous data, the SMN1 gene deletion was detected in seven out of 17 Vietnamese SMA patients and the NAIP gene deletion in five out of 17 Vietnamese SMA patients. These studies suggest that the SMN1 and NAIP gene deletions are not rare in Vietnamese SMA patients. Thus, the confirmation of SMA-related gene deletion will also be a useful tool for the diagnosis of SMA in Vietnam.

Asian People↗
PubMed1991

Cardiomyopathies in children with neuromuscular disorders.

In this paper eight patients with myogenic or neurogenic muscle disorders are presented, in whom cardiomiopathy was also found. Six patients developed a dilated cardiomiopathy associated with neurogenic atrophies or progressive muscular dystrophy. In patients with Mb. Friedreich and HSNM type II together with the total dilatation of the septum hypertrophy was observed and in patients with spinal muscular amyotrophy of scapuloperoneal type atriomyopathy dominated. In two patients with mitochondrial disorders a hypertrophic cardiomyopathy was found. One of them had mitochondrial encephalomyoneuropathy and the other mitochondrial encephalopathy with myoclonic epilepsy. In none of them a restrictive cardiomyopathy was found. From the presentation could be concluded that in neurogenic muscle diseases and progressive muscular dystrophy respectively most frequently dilated cardiomyopathies have been developed. Hypertrophic cardiomyopathies are usually found in children with mitochondrial disorders.

Adolescent↗
PubMed1990

[An association of Werdnig-Hoffman disease and pregnancy: apropos of an unusual case].

The authors describe the first case in the literature of pregnancy in a twenty year old patient suffering from Werdnig Hoffman's disease. This is pure progressive spinal muscular atrophy which involves respiratory and locomotor functions. It brings into consideration several problems of respiration and in particular of genetics to be considered in this case, and we report that pregnancy was well tolerated in the patient who had a severe physical handicap.

Adult↗
PubMedDate not supplied

[Muscular hypertrophy in clinical neurology (author's transl)].

The authors begin this general review with the pseudohypertrophies due either to an underlying extramuscular process, or to a focal lesion within the muscle, or else to miscellaneous interstitial infiltrates such as those found in cysticercosis, sarcoidosis, amylosis. True hypertrophy is most often observed in the course of muscular dystrophy. It is an usual finding in myopathies, and the prominent symptom of Thomsen disease ; it is the only symptom of hypertrophia musculorum vera and masseters hypertrophy ; it is associated with a peculiar deficit in the "Hereditary Distal Myopathy with Onset in Infancy"; it is a classical symptom of some endocrine myopathies (hypothyroidism and acromegaly). Paradoxically, true hypertrophy may, though very rarely, be encountered in the course of nervous system diseases, most often of the neuritic type : sciatica, hypertrophic neuritis, progressive spinal muscular atrophy. The mechanism of this very unusual muscular reaction remains unknown.

Acromegaly↗