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PubMed1996

[Motor neuron diseases. Present].

Recent progress in our understanding of motor neuron diseases, particularly those of degenerative pathogenesis such as spinal muscular atrophies (SMA) and amyotrophic lateral sclerosis (ALS), have to be described as historic. They are essentially of three types: 1) In first place are advances afforded by molecular genetics both in SMA (with the discovery of survival motor neurons and neuronal apoptosis inhibitor protein, which are markers of the disease and their pathogenetic mechanism) and in ALS (with the discovery of the super oxide dismutase [SOD1] gene, involved in the genesis of familial forms of ALS and other types of SMA such as certain forms of familial juvenile ALS, bulbar-spinal atrophy with gynecomasty and others). 2) In second place are biological data detailing the mechanisms of neuron death, whether programed or not, and emphasizing the importance of the so-called trophic or neurotrophin factors-whether nerve growth factor, brain-derived-neurotrophic factor, neurotrophin-3 or others whose effect of preventing neuron death has been demonstrated in vitro-as well as that of other substances such as Ca(2+)-activated neutral protease, which stabilizes synapses during development. It is assumed that one or another of these data will lead to therapeutic strategies for blocking the cascade of events that lead to neuron degeneration. 3) Finally, the strong impact of neuroimmunology in the field of neuromuscular pathology has been of interest mainly in neurogenic diseases marked purely and essentially be motor expression. As markers and pathogens, antiganglioside antibodies must necessarily be determined at this time in such entities as multifocal motor neuropathy, Guillain-Barré syndrome, acute axon motor neuropathy, Miller-Fisher syndrome and others, as their presence can inform therapeutic approaches. These three aspects and others currently under discussion will be treated in this course. At the same time the basic diagnostic aspects of motor neuron diseases will be emphasized: electrophysiologic assessment, on the one hand, and clinical features on the other. Establishing an exhaustive classification of SMA, from the earliest forms of infancy to adult types, is of great priority, as is exposing the full range of SMA according to whether distal or proximal predominance of atrophy is present. Our current understanding of the field is summarized in ten chapters on degenerative motor neuron diseases.

Amyotrophic Lateral Sclerosis↗
PubMed2003

Myosin heavy chain expression and atrophy in rat skeletal muscle during transition from cardiac hypertrophy to heart failure.

The purpose of this investigation was to determine whether changes in myosin heavy chain (MHC) expression and atrophy in rat skeletal muscle are observed during transition from cardiac hypertrophy to chronic heart failure (CHF) induced by aortic stenosis (AS). AS and control animals were studied 12 and 18 weeks after surgery and when overt CHF had developed in AS animals, 28 weeks after the surgery. The following parameters were studied in the soleus muscle: muscle atrophy index (soleus weight/body weight), muscle fibre diameter and frequency and MHC expression. AS animals presented decreases in both MHC1 and type I fibres and increases in both MHC2a and type IIa fibres during late cardiac hypertrophy and CHF. Type IIa fibre atrophy occurred during CHF. In conclusion, our data demonstrate that skeletal muscle phenotype changes occur in both late cardiac hypertrophy and heart failure; this suggests that attention should be given to the fact that skeletal muscle phenotype changes occur prior to overt heart failure symptoms.

Animals↗
PubMed1987

Static spinal muscular atrophy causing temporomandibular joint dysfunction.

A case of static spinal muscular atrophy is described. The patient presented with temporomandibular joint dysfunction. This case is unusual, not only from the perspective of clinical disease progression, but also that markedly elevated creatine kinase levels were demonstrated. Despite an obvious association of neuromuscular disorders and TMJ disease, reports of primary disorders of muscle and nerve which may predispose to this condition are rare. This case emphasizes the need for careful neuromuscular evaluation in all patients with TMJ dysfunction of nonarticular origin.

Adult↗
PubMed1974

Motor neuron disease in Nova Scotia.

Fifty-two cases of motor neuron disease seen in two Halifax hospitals were reviewed.Thirty-three (63.5%) had amyotrophic lateral sclerosis, 14 (26.9%) had primary muscular atrophy, four (7.7%) had bulbar palsy and one (1.9%) had primary lateral sclerosis. There were no unusual features in this series when compared with a similar series from the United States. These cases were used to illustrate the features of this disorder and to comment on recent research observations.

Adult↗
PubMed1979

Changes in enzymes and potassium content of the neuromuscular systems of albino rats during prolonged exposure to simulated hypogravics.

With respect to neuromuscular function, aldosterone activity, enzymatic and potassium (K) metabolism of organ tissues were investigated during the stress and adaptation stabilized phases of hypodynamically stressed rats. During adaptation, muscle tissue enzymes, such as aldolase, showed no change until the 35th day. The decrease of succinic dehydrogenase (SDH) was evident at 7 days. Lactic dehydrogenase (LDH) and creatine phosphokinase (CPK) serum levels increased transiently on the 18th day; this implied the development of muscular atrophy. A decrease in the 42K uptake of muscle was found from the 18th day onward. In the brain, a progressive decrease of aldolase was observed. 42K uptake showed no change in the brain, but the K content increased at both 7 and 18 days of exposure. The increase of cholinesterase (ChE) was more remarkable in the brain than in muscle, although transient. We suggest that the brain plays an important part in the adaptation process, through increasing or maintaining the functions of the neuromuscular excitation system during the 7-18 days of hypodynamic exposure.

Adaptation, Physiological↗
PubMedDate not supplied

[Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea].

INTRODUCTION: In 1993 the gene responsible for Huntington's disease (IT15) was isolated [5]. It was mapped to the tip of the short arm of chromosome 4 and within its coding sequence, near the 5' end, it contained a certain number of trinicleotide (CAG)n (cytosine-adenine-guanine) repeats (Figure 1). This gene codes for a protein (348 kd) called "huntington" that is widely expressed, and its sequence is not related to any protein [6]. The normal range of (CAG)n repeat numbers within IT15 was reported to be between 6 and 37 [6]. Mutation responsible for Huntington's disease implied expansion of (CAG)n repeats: in patients with Huntington's disease the pathologic range was determined to be between 35 and 121 repeats [7-10]. PATIENTS AND METHODS: In this study we correlated the age at onset, rate of progression and initial symptoms of Huntington's disease with the number of trinucleotide (CAG)n repeats in IT15. DNA was isolated from peripheral blood leukocytes of patients fulfilling clinical criteria for definite and probable Huntington's disease [2]. Genetic verification of Huntington's disease was made by the previously described and modified PRC (polymerase chain reaction) technique [17, 18]. In our laboratory a gene with 40 or more repeats was considered as a marker of Huntington's disease. RESULTS: The study comprised 26 patients (11 women and 15 men). At the onset of Huntington's disease they were between 19 and 66 years old (36.6 12.8 years), with the duration of the disease between 1 and 15 years (5.8 4.3 years). The number of (CAG)n, repeats in IT15 ranged between 40 and 95 (49.9 14.1). The negative correlation between the (CAG)n, count in the expanded allele and the age at onset of the disease has been confirmed. Regression analysis showed the correlation coefficient of -0.54 (p = 0.012). The effect of trinucleotide (CAG)n, repeats on the initial clinical manifestations and rate of progression of Huntington's disease is only one of the growing group of "CAG-repeat" disorders that also include entities such as spinocerebellar ataxia-type 1 and 3, spinobulbar muscular atrophy and dentato-rubo-pallidoluysian atrophy [6].

Adult↗
PubMed2002

[Localized hypertrophic neuropathy (LHN) of the brachial plexus: diagnosis and presurgical evaluation with MRI].

The authors report a case of localized hypertrophic neuropathy diagnosed by MRI. This 10-year-old girl presented with painless progressive deltoid atrophy. Electrodiagnostic studies demonstrated chronic denervation. An MRI performed with T1, T2, T1 with gadolinium and fat saturation sequences showed a linear 5-cm long segment of hypertrophic brachial plexus cord, with moderate high T2, intermediate T1 signal, and marked post-Gadolinium enhancement. Progressive improvement followed surgical resection with nerve graft repair. Histological study confirmed LHN (perineurial cell proliferation), a rare cause of peripheral neurological deficit. MRI findings may suggest LHN, that should be suspected as well as peripheral nerve compression or tumor; inflammatory neuritis and idiopathic lesion (with normal MRI findings) remain a diagnosis of exclusion. MR aids in the precise localization of the lesion before surgery.

Biopsy↗
PubMed2002

Hereditary motor neuropathies and motor neuron diseases: which is which.

When Charcot first defined amyotrophic lateral sclerosis (ALS) he used the clinical and neuropathological pattern of vulnerability as a guideline. Similarly other motor neuron diseases such as the spinal muscular atrophies (SMA) and the motor neuropathies (MN) were grouped following clinical criteria. However, ever since the etiology of these diseases has started to be disclosed by genetics, we have learnt that the limits of the syndromes are not as well defined as our forefathers thought. A mutation leading to ALS can also be associated with the clinical picture of spinal muscular atrophy; even more unexpected is the overlap of the so-called motor neuropathies with the clinical syndrome of slowly progressive ALS or that primary lateral sclerosis (PLS) can be caused by the same gene as that responsible for some cases of ALS. In this review we summarise recent work showing that there is a considerable overlap between CMT, MN, SMA, ALS and PLS. Insights into these phenotypes should lead to study of the variants of motor neuron disease and possibly to a reclassification. This comprehensive review should help to improve understanding of the pathogenesis of motor neuron degeneration and finally may aid the research for urgently needed new treatment strategies, perhaps with validity for the entire group of motor neuron diseases.

Amyotrophic Lateral Sclerosis↗
PubMed2003

Androgen receptors containing expanded polyglutamine tracts exhibit progressive toxicity when stably expressed in the neuroblastoma cell line, SH-SY 5Y.

The pathogenesis of X-linked spinal and bulbar muscular atrophy (SBMA) has been traced to an expansion of repeated glutamine (Gln) residues within the amino terminus of the human androgen receptor (AR). To examine the mechanisms by which these expanded repeat ARs (Exp-ARs) are toxic to neurons, we have established and characterized a cell culture model by stably transfecting SH-SY 5Y neuroblastoma cells with cDNAs containing either normal AR (81 series; 23 Glns) or Exp-AR (902 series; 56 Glns). At a low passage number, no differences in cell morphology, growth properties, or susceptibility to toxic insults were observed between clones expressing normal AR or Exp-AR. Initially, both types of cultures were found to express similar levels of specific hormone binding in monolayer binding assays. Immunohistochemical studies demonstrated the vast majority of both the normal AR and Exp-AR were localized to the nucleus in the absence and presence of androgen. As the 902 series of clones were propagated, the Exp-AR content in the cells appeared to decline progressively. However, this decrease actually reflects a gradual disappearance of the Exp-AR cell population. No such selection occurred during the propagation of cells expressing the normal AR. This selection against cells expressing physiological levels of Exp-AR occurs in the absence of intracellular aggregates and suggests that mechanisms other than those involving the formation of aggregates underlie the observed toxicity of Exp-ARs.

Apoptosis↗
PubMed2006

[An unusual cause of failure of weaning from mechanical ventilation in an infant].

The weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor developmental milestones, and areflexia. The patient showed progressive respiratory distress requiring mechanical ventilation. Definitive weaning was not achieved and the boy died from respiratory failure. Partial autopsy was performed with a diagnosis of SMA and genetic study of the parents. Neuromuscular diseases are an infrequent cause of respiratory insufficiency in suckling infants. The differential diagnosis is made between axonal and motor neuron diseases. The diagnosis was confirmed by muscular biopsy and genetic study.

Fatal Outcome↗
PubMed1999

Distal myopathies.

Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype and the significant overlap in the clinical features of many of these entities. Advances in molecular genetics have permitted a tentative classification of these disorders and have led to the identification of the responsible gene lesion for several of these entities. This review summarizes current understanding of this interesting group of muscular dystrophies and briefly summarizes other myopathies that can present with distal weakness.

Atrophy↗
PubMed2004

Spinal muscular atrophy.

Spinal muscular atrophy is a common genetic disease of the motor neuron (frequency of eight cases per 100,000 live births) with a high mortality during infancy and no known treatment. Death is caused by severe and progressive restrictive lung disease. New information regarding the nature and function of the SMN protein and the availability of new pharmacologic agents now make it possible to consider clinical trials in this disease. Rehabilitation and proper management of medical complications have improved both the quality and duration of life for children with spinal muscular atrophy.

Animals↗
PubMed2006

[Two boys with non-progressive unilateral atrophy of the calf muscles].

We report here two boys who presented with atrophy of the right calf muscle. The onset was insidious and the symptom was found in infancy in case 2. They were followed for more than 5 years and no progression was seen. No sensory disturbances or autonomic nervous system symptoms were observed. Although needle electric myograph and muscle biopsy findings showed a neurogenic pattern, no cause was confirmed. Recently, a new disease concept of "benign monomelic amyotrophy of lower limb" was established and this could be applied to these patients. This disorder is rare and it is seen in young adults. It is characterized by non-progressive unilateral calf muscle atrophy. There is almost no possibility that this disorder is a variant of spinal muscular atrophy. When a patient presents with unilateral calf muscle atrophy, the treatable causes of the atrophy, including spinal cord disorders or peripheral nerve disorders, should be excluded first. If a confirmed cause cannot be found, then there should be a careful follow-up of the patient, even if the symptoms are stable.

Adolescent↗
PubMed1977

Congenital spongy degeneration of the brain (van Bogaert - Bertrand) associated with micrencephaly and ponto - cerebellar atrophy (contributions to the pathology of glial dystrophy of intrauterin origin).

The present paper reports on two twin brothers who presented clinically at birth a syndrome characterized by progressive development of muscular hypertonia, opisthotonus, micrencephaly, amaurosis and short, localized clonic seizures. Both children died soon after one year of age. The anatomic examination performed in one case revealed a spongy degeneration of the brain of van Bogaert-Bertrand type. Associated to the cerebral degenerative syndrome was a severe malformative syndrome characterized by micrencephaly, internal hydrocephalus and pontocerebellar atrophy. The ultrastructure of the cerebellar cortex showed degenerative phenomena in the Purkinje and glial cells, demonstrating the evolutive character of the ponto-cerebellar lesions. The degenerative process consisted of the accumulation of lamellar bodies within the mitochondria and free in the cellular cytoplasm with tendency to form inclusions of the multilamellar or finger-print type. Association of the degenerative with the malformative process is not considered to be accidental but based upon the same fundamental pathologic process: glial dystrophy. It may be assumed that the pathologic defect, which as a rule produces syndromes that appear after birth (spongy degeneration of the brain, ponto-cerebellar atrophy), may in some instances act at an early date in intrauterine life, the glial dystrophy that appears so early producing both the degenerative and the malformative process.

Atrophy↗
PubMed2001

Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.

An autopsied case of autosomal recessive hereditary spastic paraplegia with severe neurogenic muscular atrophy is described herein. This patient, a 16-year-old woman, presented with gait disturbance. She developed progressive spastic paralysis of the upper and lower limbs and mental deterioration. She became bedridden at approximately 40years of age. Dysarthria worsened at 45 years of age. She died of pneumonia at 50 years of age. Her younger sister has shown similar clinical symptoms and became bedridden at 37 years of age. Their parents were second cousins. Autopsy revealed a severely atrophic brain, weighing 720 g. The cerebral cortex was thin, and the white matter was extremely reduced in volume. Microscopically, neuronal loss and variable astrogliosis with diffuse spongy changes were evident at the cerebral cortex, thalamic nuclei, basal ganglia and hippocampus. The remaining neurons were atrophied with heavy deposition of lipofuscin. In the spinal cord, the pyramidal tracts as well as the dorsal spinocerebellar tracts were degenerated. In addition, marked loss of the anterior horn cells was seen. Severe neuronal loss of the nucleus gracilis was also detected. In contrast, only mild degeneration of the ventral spinocerebellar tracts and fasciulus cuneatus in the spinal cord were observed. In the frozen sections of skeletal muscle, severe neurogenic atrophy and fatty infiltration were evident. In addition, several rimmed vacuoles were observed in the atrophic fibers, and cytochrome coxidase-deficient fibers were present in part. Reduced nicotinamide adenine dinucleotide (NADH)-tetrazolium reductase reaction revealed abnormal accumulation of mitochondria around the center of the non-atrophic muscle fibers. It is suggested that an analysis of mitochondrial function of Japanese autosomal recessive hereditary spastic hemiplegia may provide additional information to clarify the pathogenesis.

ATPases Associated with Diverse Cellular Activitie↗
PubMed1990

[The nosological situation of hereditary motor and sensory neuropathies (HMSN, Charcot-Marie-Tooth disease, neural muscular atrophy)].

Hereditary motor and sensory neuropathies (HMSN) comprise a heterogeneous group of disorders. Since phenotypic manifestations are similar in most families, classification is based on differences in the mode of inheritance, onset and progression of the disease, nerve conduction velocity and nerve biopsy findings. Autosomal dominant, autosomal recessive, X-dominant and X-recessive forms, substantial intrafamilial differences, intermediate forms and the combination of neuropathies with spinocerebellar degeneration within one and the same sibship have been described. On the basis of selected own cases it is demonstrated that there is a broad spectrum of functional and structural abnormalities depending on the progression of the disease and on the site of nerve studied (proximal or distal part). Both the neuronal and hypertrophic variants begin with axonal degeneration of the dying back type followed by segmental demyelination and variable degrees of hypertrophic Schwann cell proliferation. Constantly, posterior columns of the spinal cord reveal fiber loss. Since the molecular basis of the different forms remains to be clarified it seems to be of greater interest to underline common features than to separate seemingly different nosological entities. It is suggested that the latter are partly the result of a selection of cases with a variable severity. Evidently, the syndrome of myatrophic ataxia comprises apart from "pure" HMSN with unsignificant degenerations of posterior columns and "pure" Friedreich's ataxia with mild peripheral nerve fiber loss intermediate forms.

Adult↗