Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with asymmetrical patchy weakness of the limbs, and with autoantibodies against gangliosides GM1, GD1b, asialo GM1. Although electrophysiological studies did not reveal conduction block, treatment with prednisolone resulted in clinical improvement. A 52-year-old man was admitted to Kyoto University Hospital, because of gait disturbance. Neurological examination revealed a patchy distribution of weakness in the limbs. Deep tendon reflex was normal at the right knee, and was depressed at the right biceps. Other deep tendon reflexes were absent. There was a slight decrease in vibratory sensation in the distal portions of the lower extremities. Routine laboratory studies, heavy metal screen, vitamin, cryoglobulin, coproporphyrin and delta-amino levulinic acid in urine, and the protein value of the cerebrospinal fluid were normal. Head and neck MRI, and myelography were normal. Immunofixation electrophoresis showed IgM lambda M-protein in serum. Thin-layer chromatography with immunostaining showed his serum IgM reacted with GM1, GD1b, and asialo GM1. ELISA (Enzyme Linked Immunosorbent Assay) demonstrated high titers of anti GM1, GD1b and low titer of anti asialo GM1. Motor conduction studies showed no demonstrable conduction block, normal conduction velocities and the low amplitudes of CMAP. Sensory conduction studies showed no abnormalities except for slightly decreased amplitude of SNAP in sural nerve. Electromyography showed active denervation in extensor digitorum communis muscle, tibialis anterior muscle and left biceps brachii muscle. Muscle biopsy specimen revealed large and small group atrophy and there was perivascular mononuclear infiltration at one point.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Multifocal axonal motor neuropathy associated with anti-ganglioside antibodies]. 129 59

The discovery of the genetic basis of hereditary lower motor neuron disease (LMND) and the recognition of multifocal motor neuropathy as a distinct clinical entity necessitate a new classification of LMND. To this end, we studied the clinical and electrophysiological features of 49 patients with sporadic adult-onset LMND in a cross-sectional study. Disease duration was more than 4 years to exclude the majority of patients with amyotrophic lateral sclerosis. Based on the pattern of weakness, we identified three groups: 13 patients with generalized weakness (group 1); eight patients with symmetrical, distal muscle weakness (group 2); and 28 patients with non-generalized asymmetrical weakness of the arms in most patients (group 3). Group 3 could be subdivided into patients with weakness in predominantly the distal (group 3a) or the proximal (group 3b) muscle groups, both with disease progression to adjacent spinal cord segments. Distinctive features of group 1 were an older age at onset, more severe weakness and muscle atrophy, lower reflexes, greater functional impairment, more widespread abnormalities on concentric needle EMG, respiratory insufficiency and serum M-protein. In groups 2 and 3, concentric needle EMG findings also suggested a more widespread disease process. Retrospectively, the prognosis of sporadic adult-onset LMND appears to be favourable, because clinical abnormalities were still confined to one limb in most patients after a median disease duration of 12 years. We propose to classify the patients in the different subgroups as slowly progressive spinal muscular atrophy (group 1), distal spinal muscular atrophy (group 2), segmental distal spinal muscular atrophy (group 3a) and segmental proximal spinal muscular atrophy (group 3b). The described clinical phenotypes may help to distinguish between different LMND forms.
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PMID:Sporadic lower motor neuron disease with adult onset: classification of subtypes. 1269 44