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PubMed1983

Plasmapheresis with immunosuppression in amyotrophic lateral sclerosis.

Four patients with amyotrophic lateral sclerosis and one with progressive muscular atrophy were treated with large-volume plasmapheresis combined with immunosuppression. Assessment of muscle strength and functional ability was performed during a period of time ranging from 6.2 to 13 months. Patients were compared with a clinically matched control group. Both treated and untreated patients continued to show similar deterioration. The results of this study failed to show any therapeutic benefit of plasmapheresis with immunosuppression in patients with amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis↗
PubMed1988

Long-term changes in the spinal cords of patients with old poliomyelitis. Signs of continuous disease activity.

In a retrospective study, we reviewed sections from the spinal cords from eight patients, aged 36 to 61 years, who had had poliomyelitis and who died of nonneurologic diseases nine months to 44 years (mean, 20.7 years) after the acute poliomyelitis infection. Five patients had stable postpoliomyelitis deficits without new symptoms, and three patients had new slowly progressive muscle weakness defined as postpoliomyelitis progressive muscular atrophy (PPMA). Representative spinal cord sections matched the patients' clinical involvement in both groups. Control tissues from ten patients with amyotrophic lateral sclerosis and five with spinocerebellar degeneration were examined simultaneously. The spinal cord segments from all patients who had had poliomyelitis showed loss or atrophy of motor neurons, severe reactive gliosis (disproportional to the neuronal loss), and a surprising mild to moderate perivascular and interparenchymal inflammation. There was no difference in these pathologic changes between the patients with stable postpoliomyelitis deficits and those with PPMA. Additional findings were axonal spheroids (dystrophic axons) and occasional chromatolytic neurons in the spinal cord of patients with PPMA. Corticospinal tracts were spared.

Adult↗
PubMed1999

Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II.

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that exhibits progressive muscular atrophy in the limbs, beginning with the lower extremities. It is now understood to be a heterogeneous group of disorders that can be differentiated both clinically and genetically. In Charcot-Marie-Tooth disease type II C, axonal neuropathy, diaphragm weakness, and vocal cord paralysis are described within kindreds. We used laryngeal electromyography to study a patient with this disorder. This technique has potential in the diagnosis of Charcot-Marie-Tooth disease type II.

Adult↗
PubMed2000

Chronic motor axonal neuropathy associated with antibodies monospecific for N-acetylgalactosaminyl GD1a.

We report on three patients with chronic motor neuropathy who had elevated titers of immunoglobulin (Ig)G antibodies against N-acetylgalactosaminyl GD1a (GalNAc-GD1a) and normal titers of antibodies against other gangliosides. Presenting with progressive muscular atrophy, fasciculations, and no sensory deficits, the patients had been diagnosed to have motor neuron disease. Electrodiagnostic features were predominantly axonal. Two patients clinically improved after intravenous Ig infusion and cyclophosphamide therapy. Increased titers of IgM antibodies to GalNAc-GD1a were also found in two of 15 patients with multifocal motor neuropathy with conduction block but were associated with concomitant rise of anti-GM1 antibodies. These three cases represent a chronic motor axonal neuropathy in which antibody testing for a minor ganglioside was helpful for instituting therapy.

Action Potentials↗
PubMed2000

Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis.

Computed tomography (CT) scans of lower leg muscles reveal a selective pattern of fat infiltration in the posterior compartment with spared gracilis, semitendinosus, and the lateral head of the gastrocnemius in both McLeod syndrome and chorea-acanthocytosis, which are disorders characterized by the presence of circulating acanthocytes. The selectivity of affected muscles indicates that late onset and slowly progressive muscular atrophy in both diseases could be a consequence of primary myopathy. Asymmetrical muscle involvement may be seen during the process of degeneration only in McLeod syndrome, however, and may be helpful in distinguishing this disease from chorea-acanthocytosis.

Adult↗
PubMed1989

Isoelectric focusing studies of serum and cerebrospinal fluid in patients with antecedent poliomyelitis.

The post-poliomyelitis syndrome (PPS) refers to symptoms of new weakness, fatigue, and pain years after recovery from acute poliomyelitis. Oligoclonal IgG bands have been reported in the cerebrospinal fluid (CSF) from PPS patients, suggesting that the syndrome is immune mediated or caused by persistent viral infection. We studied 15 paired serum and CSF samples and 6 unpaired CSF samples from a total of 21 patients with a prior history of poliomyelitis. Quantitative immune studies failed to show evidence for increased intrathecal IgG production relative to patients with noninflammatory central nervous system (CNS) disease. We found definite oligoclonal IgG bands in the CSF from only 1 patient, who also carried a diagnosis of multiple sclerosis. An isoelectric focusing poliovirus antigen overlay study showed evidence that suggested a CNS-specific antipoliovirus immune response in only 1 patient. Our results fail to support a dysimmune or persistent viral cause for post-poliomyelitis progressive muscular atrophy or PPS.

Adult↗
PubMed1990

Mechanism of muscle wasting in myotonic dystrophy.

Myotonic dystrophy is associated with progressive muscular atrophy. In order to determine the mechanism of muscle wasting in this condition, we measured fractional mixed skeletal muscle protein synthesis in the postabsorptive state in 8 patients with myotonic dystrophy, and compared the results with those of 10 normal subjects. Fractional muscle protein synthesis was determined by measuring the increment of 13C leucine in mixed skeletal muscle protein obtained by needle biopsy from the quadriceps muscle during a primed-continuous infusion of L-(1-13C) leucine. We used plasma 13C alpha-ketoisocaproate (representing intracellular leucine labeling) as the precursor pool for the calculation of fractional muscle protein synthesis and leucine kinetics. Fractional muscle protein synthesis was depressed in the patients with myotonic dystrophy (28% decrease, p less than 0.02). Leucine flux, leucine oxidation, and the nonoxidative portion of leucine flux were not different between the patients with myotonic dystrophy and the normal control subjects. Muscle atrophy in myotonic dystrophy reflects a selective decrease in muscle protein synthesis without any similar decrease in nonmuscle protein synthesis. This decrease may result from an impaired end-organ response to anabolic hormones or substrates.

Adult↗
PubMed1993

Forearm 3-methylhistidine efflux in myotonic dystrophy.

Myotonic dystrophy is associated with progressive muscular atrophy. To define the mechanism of muscle wasting in this disease, we studied myofibrillar proteolysis in vivo in 8 men moderately affected with myotonic dystrophy, and compared the results with those of 10 normal men. Myofibrillar proteolysis was estimated by measuring the 3-methylhistidine arteriovenous difference (A-V) and efflux (Q) across the forearm in the postabsorptive state. Plasma 3-methylhistidine concentrations were determined by high-performance liquid chromatography with postcolumn o-phthalaldehyde derivatization and fluorescence detection. Plasma flow to the forearm muscles (F) was estimated to represent 85% of total forearm plasma flow as determined by the indicator-dilution technique. Forearm 3-methylhistidine efflux was calculated as: Q = F(A-V). Mean muscle mass (24-hour creatinine excretion), lean body mass, and forearm volume were decreased in the patients with myotonic dystrophy, confirming the presence of muscle atrophy. Mean forearm 3-methylhistidine arteriovenous difference and efflux were not significantly different in the two groups. We conclude that myofibrillar protein degradation is not increased in myotonic dystrophy, even when measured in a muscle compartment selectively affected by wasting. Muscle atrophy in myotonic dystrophy is probably the result of defective anabolism rather than accelerated catabolism.

Adult↗
PubMed2003

Origins and early descriptions of "Duchenne muscular dystrophy".

One of the seminal events in the history of neurology was the identification of primary diseases of muscle and their separation from diseases in which muscle weakness was secondary to injury involving the anterior horns of the spinal cord ("progressive muscular atrophy"). Not surprisingly, one of the first groups of primary muscle diseases to be satisfactorily characterized belonged to what would today be classified as muscular dystrophies. Pride of place in this group belongs to Duchenne muscular dystrophy (DMD). DMD's primacy as the first well-characterized muscular dystrophy was due both to the fact that it is relatively common, as well as to the clinically striking feature, apparent in many cases, of apparent paradoxical enlargement of severely weakened muscles ("pseudo-hypertrophy"). This review traces the historical roots of DMD in the 19th century, from the early papers by Conte, Bell, Partridge, and Meryon through the classic monographs by Duchenne and Gowers. In addition, the first American contributions to DMD are reviewed, including those by Pepper, Hammond, and S. Weir Mitchell. Many of the original papers describing this disease are now unavailable outside of major medical libraries, and several important contributions, excepting those of Duchenne, which are recognized eponymously, are now virtually forgotten.

History, 19th Century↗
PubMedDate not supplied

Acetylcholinesterase and ATPases in motor neuron degenerative diseases.

Acetylcholinesterase (AChE) activity was measured in the presence of the specific inhibitor of pseudocholinesterase, iso-OMPA, in plasma from patients with amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), neuromuscular disease controls, and normal controls. Both AChE and Na-K ATPase activities were measured in erythrocyte ghost membranes from ALS and normal controls. Activities of erythrocyte ghost AChE and Na-K ATPase did not differ between ALS and control patients, suggesting that erythrocyte membranes were normal in ALS. However, the activity of plasma AChE in patients with ALS and PMA was increased significantly over plasma activity in disease controls and normal controls. In addition, in an animal model of human PMA, the Wobbler mouse, plasma AChE activity was increased significantly over littermate controls. The explanation for the increase in plasma acetylcholinesterase was not clear; however, a number of potentially useful clinical points followed from this study. First, there was no relationship between a specific subtype of motor neuron disease and the level of AChE activity. Second, AChE activity appeared to vary directly with the duration of PMA but not with the severity of PMA. This did not correlate with either the duration or severity of ALS. Last, plasma AChE activity was normal in about 30% of patients who had motor neuron disease; therefore, AChE assay had limited use in the diagnosis of ALS or PMA.

Acetylcholinesterase↗
PubMed1985

Somatosensory evoked potentials in motor neuron disease.

We studied median somatosensory evoked potentials (SEPs) in an unselected series of 30 patients with sporadic motor neuron disease (MND). SEPs were affected in 17 patients (57%), with a higher incidence of abnormality in amyotrophic lateral sclerosis and bulbar palsy than in progressive muscular atrophy. In a majority of patients, simultaneous bilateral stimulation of the median nerve revealed a delay or absence of scalp-recorded central N32 and/or N60, leaving the earlier peaks intact. In the remaining cases, the N19 peak was asymmetrically prolonged. These findings suggest common involvement of somatosensory pathways in MND, either at cortical or subcortical levels, and correlate with neuropathologic reports of neuronal degeneration beyond the primary motor system.

Adult↗
PubMed1993

Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.

Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. Two patients with a deletion involving exon 1 were quite unique in that they developed fatal myocardial involvement in their teens, despite the absence of significant muscular weakness. The deletion found in these patients comprised the 3'-end of exon 1 and the greater part of intron 1. Two other patients with a deletion of exon 47 showed progressive muscular atrophy and weakness; they were considered to be typical BMD in both clinical features and the type of gene deletion. We speculate that a deletion around exon 1 may severely damage the expression and/or the function of dystrophin selectively in cardiac muscle, but not in skeletal muscle.

Adolescent↗
PubMed1981

Polysaccharide (amylopectin-like) storage myopathy histochemical ultrastructural and biochemical studies.

A case of an adult polysaccharide myopathy is reported in a patient with progressive muscular atrophy and weakness of limb girdles. Histochemistry and electron microscopy showed in some muscle fibers, a storage material composed of amylopectin-like filaments. Biochemical results were normal and no enzyme deficiency was found. This case is compared with three other published cases. Pathological conditions with amylopectin or amylopectin-like storage material are reviewed.

Amylopectin↗
PubMed1995

Parkinsonism in motor neuron disease: case report and literature review.

This report describes a patient who had clinical features of both motor neuron disease and Parkinson's disease. Neuropathological examination and immunocytochemical studies showed that he had motor neuron disease of the progressive muscular atrophy type, and Lewy body Parkinson's disease, with intracytoplasmic inclusion bodies characteristic of both conditions. This is the first detailed description of these two diseases occurring concurrently in the same patient. A review of all previously reported cases of combined motor neuron disease and parkinsonism has led to the following conclusions: (1) that these two neuropathologically defined diseases occur together very infrequently, but (2) that parkinsonism and substantia nigra degeneration are not uncommon as part of the multi-system disease process underlying motor neuron disease.

Aged↗
PubMed1990

Magnetic resonance imaging in motor neuron disease.

Magnetic resonance imaging (MRI) of the brain was evaluated in 20 patients with motor neuron disease (MND) and in a control group of 11 healthy people. Bilateral increased signal areas of various sizes in the centrum semiovale, corona radiata, internal capsule, pedunculi of midbrain, pons, medulla and even in the frontal lobe, topographically related with the corticospinal tract, were found in 8 out of 20 patients. Three out of 4 patients with progressive bulbar paralysis and 5 out of 11 cases of amyotrophic lateral sclerosis had abnormal MRI. Such MRI abnormalities have neither been found in patients with progressive muscular atrophy nor in controls, suggesting that they may be the hallmark of pyramidal tract degeneration in motor neuron disease.

Adult↗
PubMed1983

Morphological study on the hereditary neurogenic amyotrophic dogs: accumulation of lipid compound-like structures in the lower motor neuron.

A morphological study was performed on hereditary neurogenic amyotrophic dogs, the clinical features of which especially resembled spinal progressive muscular atrophy (SPMA), a human motor neuron disease. The skeletal muscles showed obvious neurogenic atrophy with endomysial fibrosis. The peripheral nerves revealed axonal degeneration mainly limited to the motor nerve. In the spinal cord, the number of anterior horn cells seemed normal but, interestingly enough, numerous accumulated granules were detected in these anterior horn cells. Histochemically, these granules were interpreted as a lipid compound. Under the electron microscope, the granules were disclosed as multi-lamellar structures, arranged concentrically or in parallel, resembling membranous cytoplasmic bodies (MCBs) or zebra bodies. This finding strongly suggests that hereditary abnormality of lipid metabolism may underlie SPMA in these dogs. However, unlike other metabolic disorders where accumulations of granules are diffusely distributed, in the dogs we examined accumulations were found only in the anterior horn cells of the spinal cord and in the hypoglossal and spinal accessory nuclei. We are unable to explain this occurrence at the present time. Further investigations should be made on dogs because they serve as an important animal model of human motor neuron disease.

Animals↗
PubMed2003

Alpha-synuclein in motor neuron disease: an immunohistologic study.

Alpha-synuclein (ASN) has been implicated in neurodegenerative disorders characterized by Lewy body inclusions such as Parkinson's disease and dementia with Lewy bodies. Lewy body-like inclusions have also been observed in spinal neurons of patients with amyotrophic lateral sclerosis (ALS) and reports suggest possible ASN abnormalities in ALS patients. We assessed ASN immunoreactivity in spinal and brain tissues of subjects who had died of progressive motor neuron disorders (MND). Clinical records of subjects with MND and a comparison group were reviewed to determine the diagnosis according to El-Escariol Criteria of ALS. Cervical, thoracic and lumbar cord sections were stained with an antibody to ASN. A blinded, semiquantitative review of sections from both groups included examination for evidence of spheroids, neuronal staining, cytoplasmic inclusions, anterior horn granules, white and gray matter glial staining, corticospinal tract axonal fiber and myelin changes. MND cases, including ALS and progressive muscular atrophy, displayed significantly increased ASN staining of spheroids ( P< or =0.001), and glial staining in gray and white matter ( P< or =0.05). Significant abnormal staining of corticospinal axon tract fibers and myelin was also observed ( P< or =0.05 and 0.01). Detection of possible ASN-positive neuronal inclusions did not differ between groups. Significant ASN abnormalities were observed in MND. These findings suggest a possible role for ASN in MND; however, the precise nature of this association is unclear.

Adult↗