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At least 325 records · Page 18Linked to original sources
PubMed1996

Motor neuron disease with pyramidal tract dysfunction involves the cortical generators of the early somatosensory evoked potential to tibial nerve stimulation.

We evaluated somatosensory evoked potentials (SEPs) to tibial nerve stimulation in 39 patients with sporadic motor neuron disease using multiple scalp derivations (earlobe reference). SEPs were altered in 22 of 29 amyotrophic lateral sclerosis (ALS) patients, whereas they were unaffected in 10 progressive muscular atrophy (PMA) patients. The main changes involved the amplitude and the field distribution of the early P40 and N37 cortical potentials with different modalities varying from a selective loss of the P40 potential (33% of tested sides) to absence of all early cortical SEPs (22% of tested sides). The later components following N50 were generally spared. The commonly used Cz-Fz montage was inadequate for detecting these alterations. Central afferent conduction was slightly affected. The selective loss of cortical SEPs and their close correlation with clinicoelectrophysiologic evidence of central motor system involvement strongly support a cortical origin of the SEP alterations in ALS. We suggest that neuronal loss in the somatosensory cortex may selectively affect the generator sites of the cortical SEPs to lower limb stimulation.

Adult↗
PubMed1997

Quantification of brain metabolites in amyotrophic lateral sclerosis by localized proton magnetic resonance spectroscopy.

We performed proton magnetic resonance spectroscopy (1H-MRS) in patients with motor neuron disease (MND) to determine the absolute in vivo concentrations in the brain of the metabolites N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr/PCr). We examined the spectra acquired from a 20 x 20 x 20-mm3 voxel placed in the motor cortex and in the cerebellum from seven patients with clinically probable or definite amyotrophic lateral sclerosis (ALS) according to the El Escorial criteria, from three patients with suspected ALS (progressive muscular atrophy), and from eight normal control subjects. We estimated the concentrations of the metabolites using the water signal as an internal standard. The concentrations of Cho and Cr/PCr in both brain regions, as well as the concentration of NAA in the cerebellum, were unaltered in the MND patients compared with the controls. Only MND patients with both upper and lower motor neuron signs had a significantly decreased concentration of NAA (9.13 +/- 0.28 mM, mean +/- SEM) in the primary motor cortex when compared with healthy controls (10.03 +/- 0.22 mM). In conclusion, the slightly decreased concentration of NAA in the primary motor cortex from ALS patients may represent a loss of neurons in this region.

Adult↗
PubMed1995

Cytoplasmic body myopathy with hypertrophic cardiomyopathy.

A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bodies in skeletal muscle fibers and myofiber disarray in myocardium. No cases of cytoplasmic body myopathy with hypertrophic cardiomyopathy have been reported previously. It is suggested that the Z-line component is related to the formation of the cytoplasmic body in skeletal muscle and disarray in the cardiac muscle.

Adolescent↗
PubMed1994

[Charcot. Dates. Legend and reality].

This introductiion to the session devoted to Charcot reviews the important steps in his career: 1848, the internship, followed by the "chef de clinique" state (1852-53); the central hospital office in 1856; the agregation in 1860; the chair of pathological anatomy in 1872; the clinical chair in diseases of the nervous system in 1882. We review as well the milestones in his scientific work. His arrival in 1862 at the Salpêtrière which he would never leave; there in 1866, he started a "free" course which became the point of departure for his reputation. Taking advantage of histology together with a mastery of the anatomical-clinical method permitted him to achieve considerable progress with a few years (associating locomotor ataxia with lesions of the posterior roots and columns; acute and chronic progressive muscular atrophy with those of the anterior horn: separating multiple sclerosis from Parkinson's disease) which culminated in the masterful description of amyotrophic lateral sclerosis (1874), the pathological anatomy and physiology of the spinal cord (1873) and cerebral localisations of motor areas (1875). Beginning in 1878, he applied the nosological method to the study of hysteria, relying on the notion of "analogous anatomy" in seeking a correspondence between organic lesions and "dynamic lesions". In 1883 and 1884, his approach to aphasia led him to introduce beyond the anatomical-clinical fact a new speculative dimension, that of psycho-physiology. This he applied to interpret hysterical ailments and "psychic paralyses". The personality of Charcot is briefly sketched. In the arts as in politics, he was more of a conservative than an opportunist; authoritarian, shy, and brusque, gloomy and taciturn, he nontheless had a remarkable power to attract.

Clinical Medicine↗
PubMed1992

[Paraproteinemia and motor neuron disease].

In some patients, motor neuron disease (MND) is associated with a paraprotein, raising the question that there may be a relationship between MND and monoclonal gammopathy. We analysed the presence of monoclonal immunoglobulin in the serum from 53 patients with MND using immunofixation in cellulose acetate membrane. The incidence of paraproteins in 6 cases (11.3%) of patients with MND exceeds values found with cellulose acetate membrane supports in reported populations (below 1%), even when age was also considered. Monoclonal components were IgG (33%), IgM (33%) and IgA (33%). In six cases, four showed typical changes of amyotrophic lateral sclerosis and other two patients were spinal progressive muscular atrophy (SPMA) in autopsy. No malignancy was detected in all cases. These results corroborate the concept of a probable association between MND and benign monoclonal gammopathy (plasma cell dyscrasia). A patient with SPMA had transient elevation of IgG-GM1 antibodies. Other five patients with M-proteinemia did not show elevated serum anti GM1 antibodies.

Female↗
PubMed1992

[Studies on motor neuron disease with cranial magnetic resonance imaging].

The present study was performed to examine the pyramidal tracts of the brain in both 51 normal subjects (21 male and 30 female subjects; mean age of 43.5 +/- 16.1 years) and 12 patients with motor neuron disease (6 male and 6 female patients; mean age of 57.4 +/- 7.9 years), using the magnetic resonance imaging (MRI). The 12 patients with motor neuron disease (MND) comprised 7 suffering from spinal progressive muscular atrophy (SPMA) and 5 from amyotrophic lateral sclerosis (ALS). The MRI used in this study was of both short spin echo and long spin echo sequence. Of the 52 normal subjects, 24 of them (47%) had the T2 prolonged small areas (high signal intensity areas) at the posterior limb of internal capsule. These findings were not found in the normal subjects over fifty years old. No similar finding was detected in the pyramidal tracts except the posterior limb of internal capsule. On the other hand, 8 patients with MND (67%) proved to have the high signal intensity areas in the pyramidal tracts. Moreover, these high intensity areas were extended from the crus cerebri to corona radiata in 7 patients (58%). In all patients with ALS, these areas were extended in whole areas of the pyramidal tracts, and the similar findings were also found in two patients with SPMA. These findings were demonstrated to be more extensive than those in the normal subjects. The results thus obtained warrant us to conclude that cranial MRI is useful to detect the degeneration of the pyramidal tracts of MND patients.

Adolescent↗
PubMed2006

Heterogeneity of the triple A syndrome and assessment of a case.

Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and--occasionally--autonomic instability. Disease causing mutations have been found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation could be found. We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction presented with excessive sweating. DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations. A similar genotype was previously reported, but with a remarkably different phenotype.

Adult↗
PubMed2006

[Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case report].

Emery Dreifuss muscular dystrophy (EDMD) is an uncommon hereditary myopathy characterized by 3 symptoms: slow progressive muscular atrophy, muscular contractures and cardiac disease which affect prognosis. We report a 22 year-old patient with EDMD which shows the typical features of the associated dilated cardiomyopathy, ventricular arrhythmia, atrio-ventricular block, atrial standstill then atrial paralysis.

Adult↗
PubMed1991

Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase.

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.

Adolescent↗
PubMed1990

[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles].

We evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

Role of aluminium in sporadic motor neuron disease.

In an attempt to ascertain the role of aluminium in sporadic motor neuron disease (MND), trace metals were estimated in blood, plasma and cerebrospinal fluid (CSF) of 38 patients of sporadic MND and 30 controls by direct current plasma emission spectrophotometry. CSF aluminium levels (20.76 +/- 4.38 micrograms/dl) were significantly higher (P less than 0.05) in those patients of MND who presented as progressive bulbar palsy (PBP) as compared to the other subtypes of MND (amyotrophic lateral sclerosis = 7.71 +/- 2.01 micrograms/dl; progressive muscular atrophy = 10.01 +/- 2.41 micrograms/dl) and controls (11.63 +/- 2.82 micrograms/dl). Aluminium may be important in the etiopathogenesis of a subgroup of sporadic MND.

Adolescent↗
PubMed1990

Fatal encephalitis in a patient with chronic graft-versus-host disease.

A 32-year-old male patient with chronic myelocytic leukemia in accelerated phase received a bone marrow allograft from his 42-year-old HLA/MLC-identical sister. He recovered from acute graft-versus-host disease (GVHD) grade III-IV of skin, liver and gut, but chronic GVHD of progressive onset developed. On day 556 post-graft severe thrombocytopenia was resistant to prednisolone, cyclophosphamide and high dose immunoglobulin. Splenectomy was followed by a normalization of platelet counts. The subsequent clinical course was characterized by progressive muscular atrophy and weight loss. Dysphagia, dysarthria, cachexia and ultimately recurrent pneumonic episodes ensued. The cachectic patient developed a highly abnormal breathing pattern with hypoventilation and intermittent apnea requiring mechanical ventilation. Auditory evoked potentials revealed a considerable dysfunction of the brainstem. The patient died on day 1120 post-graft from pneumonia, aggravated by thoracic muscular insufficiency. Postmortem examination revealed diffuse predominantly lymphoid perivascular infiltration in meninges and CNS tissue; proliferation of activated microglial cells expressing the HLA-DR antigen was prominent in the brainstem. These histologic changes are similar to those observed in the CNS in experimental GVHD. We suggest that this case represents the first documentation of CNS involvement in chronic GVHD.

Adult↗
PubMed1988

Motor neuron disease in the Rocky Mountain region.

We saw 166 patients with motor neuron disease over a ten-year period, 116 with amyotrophic lateral sclerosis-111 sporadic and 5 familial-and 50 with progressive muscular atrophy. The age at onset varied widely, with the youngest mean onset occurring in the familial group. The most common presenting symptoms were leg or arm weakness and difficulty speaking or swallowing; fewer patients reported cramping, fasciculation, or fatigue. Mean survival time was less in familial cases, women, older patients, and in those with difficulty speaking and swallowing. A total of 50% of all patients were alive after four years; 13% were alive after ten years. Previous reports on the natural history of motor neuron disease may be overly pessimistic in suggesting that survival time rarely exceeds two years.

Adolescent↗