1/111. A reversible cause of hypercapnic respiratory failure: lower motor neuronopathy associated with renal cell carcinoma.We describe a unique case of a patient with a reversible paraneoplastic motor neuronopathy who presented with hypercapnic respiratory failure. The patient developed progressive respiratory and limb muscle weakness until treated with removal of a renal cell carcinoma, which was followed by a complete resolution of neuromuscular symptoms. The literature of paraneoplastic motor neuronopathies is reviewed, specifically in reference to respiratory failure.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/111. motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration.The frontotemporal dementias are a group of relatively new and evolving clinical and pathologic entities. The predominant frontal-temporal atrophy causes a variety of clinical syndromes, usually dominated by disturbances in behavior, mood, and speech. The motor neuron disease-inclusion dementia (MNDID) subtype is characterized by the accumulation of specific intraneuronal ubiquitin-immunoreactive inclusions with the complete absence of tau immunoreactivity. We present a patient with the clinical and neuroimaging characteristics of a highly asymmetric neurodegenerative condition distinguished by limb rigidity, bradykinesia, dystonia with an alien limb phenomenon, cortical sensory findings, and limb apraxia. His premorbid diagnosis was cortical-basal ganglionic degeneration but he had the typical histologic features of a frontotemporal dementia of the MNDID subtype.- - - - - - - - - - ranking = 53.192249649152keywords = atrophy (Clic here for more details about this article) |
3/111. Troyer syndrome: a combination of central brain abnormality and motor neuron disease?Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. Brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.- - - - - - - - - - ranking = 54.192249649152keywords = atrophy, muscle (Clic here for more details about this article) |
4/111. Immunoadsorption in multifocal motor neuropathy.To our knowledge, this is the first reported application of immunoadsorption in a patient with multifocal motor neuropathy (MMN). The diagnosis relied on the typical clinical features, markedly increased IgM-GM1 antibodies, multiple motor conduction blocks, and motor nerve biopsy. Immunoadsorption was carried out in seven cycles of two sessions each within 97 days. From the first therapy, muscle force as well as nerve conduction velocity and conduction blocks deteriorated continuously. As a consequence, immunoadsorption cannot be recommended as a treatment for MMN.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
5/111. Rapidly progressive aphasia and motor neuron disease: a clinical, radiological, and pathological study of an autopsy case with circumscribed lobar atrophy.This report concerns an autopsy case of rapidly progressive aphasia and motor neuron disease. The patient was a Japanese woman who was 75 years old at the time of death. The family history did not reveal hereditary burden. She developed language disturbances and difficulty in swallowing at age 74. Neurological examination 1 month after the disease onset revealed motor aphasia without dementia and bulbar sign, followed by muscle weakness of the four extremities. Neuroradiological examination revealed progressive atrophy of the anterior part of the left temporal lobe. She died of respiratory difficulty 10 months after the disease onset. Macroscopically, neuropathological examination showed circumscribed atrophy of the left perisylvian region and, histologically, neuronal loss in the cerebral cortex, including the primary motor area, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to obvious degeneration of the pyramidal tracts and presence of Bunina bodies. ubiquitin-immunoreactive neuronal inclusions were present in the hippocampal dentate granular cells and frontotemporal cortical layer II neurons. Based on these clinicopathological findings and a review of the literature, we concluded that our case is the first reported case of amyotrophic lateral sclerosis with dementia that clinically showed rapidly progressive aphasia.- - - - - - - - - - ranking = 320.15349789491keywords = atrophy, muscle (Clic here for more details about this article) |
6/111. Familial pontocerebellar hypoplasia type I with anterior horn cell disease.We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.- - - - - - - - - - ranking = 1856.3232007218keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
7/111. Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy.We discovered a new homoplasmic mutation in the mitochondrial cysteine tRNA of a 60-year-old Caucasian male suffering from asymmetrical pure lower motor neuron disease (MND) and temporal lobe epilepsy (TLE). Furthermore, titrations with Amytal, an inhibitor of NADH:CoQ oxidoreductase, revealed mild mitochondrial dysfunction in skeletal muscle tissue, which was described in patients with MND in an earlier report. The mutation was undetectable in 155 Caucasian controls of both sexes, in 40 MND patients and in 13 individuals suffering from TLE. It was, however, detected in a heteroplasmic state in the patient's mother, who did not suffer from a neurological disorder. Since this rare mutation affected a nonconserved base position and was not observed in MND or TLE materials, its relation to disease remains unclear.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
8/111. pathology of Madras type of motor neuron disease (MMND)--a histological and immunohistochemical study.A neuropathological report of Madras type of motor neuron disease (MMND) is presented and the differences from other forms of MND are discussed. An 18-year-old girl presented with nerve deafness and slowly progressive bulbo-spinal muscular atrophy, characteristic of MMND. Post-mortem examination of the spinal cord showed a severe loss of anterior horn cells, prominent dilatation of vessels, diffuse, but sparse sprinkling of microglial cells and lymphocytes, and demyelination and sclerosis of the ventrolateral columns. Neuronal depletion and marked gliosis was noted in the cochlear nucleus on both sides, while other bulbar motor nuclei were also involved. The cochlear nerve showed demyelination and axonal loss. Trigeminal and vestibular ganglia revealed features of ganglionitis. The possibility of an inflammatory aetiology for MMND needs to be considered.- - - - - - - - - - ranking = 1803.1309510727keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
9/111. 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.- - - - - - - - - - ranking = 1803.1309510727keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
10/111. Lower motor neuron disease associated with myelofibrosis.We present a patient who has signs pointing to the involvement of lower motor neurons and myelofibrosis. To our knowledge, unlike lymphoproliferative disorders, co-occurrence of myelofibrosis and lower motor neuron disease (MND) has not been reported so far. A 64-year-old male patient was admitted to our hospital with the complaint of painful cramps in his neck and forearms. On physical examination marked hepatomegaly and splenomegaly were found. On neurologic examination nasal quality of the voice and slight palatal weakness were detected. There were generalised slight weakness and atrophy in both proximal and distal muscle groups. Fasciculations were observed especially in forearm muscles and it was observed that he had been avoiding head movements because of painful muscle cramps. Deep tendon reflexes were hypoactive. Nerve conduction studies were normal. By needle electromyography, giant motor unit action potentials (amplitudes up to 8 mV), fibrillation potentials, positive sharp waves and fasciculation potentials were detected in all muscles which were investigated. A hypercellular bone marrow (100%) was determined by bone marrow biopsy. In addition to increased production of the myeloid and megakaryocytic lines, abnormal aggregation and grouping of megakaryocytes were seen. Reticular fibers were increased. He had some benefit of dyphenilhydantoin treatment given for the painful cramps in his neck and forearm muscles. hydroxyurea treatment was started for myelofibrosis. Six months later, his general condition was better, and the painful cramps were completely resolved. No marked deterioration has been detected in neurologic examination and electromyography for 1 year.- - - - - - - - - - ranking = 58.192249649152keywords = atrophy, muscle (Clic here for more details about this article) |
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