Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Biopsy of the sural nerves distinguished two groups of patients with peroneal muscular atrophy (Charcot-Marie-Tooth): a hypertrophic type and a neuronal type. In patients with the hypertrophic type (10 nerves), 30-100 per cent of teased fibres of the sural nerve had demyelinated segments, numerous onion-bulb formations and often an increase in endoneurial space. Large and small fibres, with a diameter of more than 7 micron and less than 5 micron were diminished in number. Regeneration was scarce. There were more fibres with 60-120 myelin lamellae than in normal nerve, suggesting an atrophy of the axon. Biopsy of 19 sural nerves of patients with the neuronal type of PMA showed loss of large fibres (more than 7 micron in diameter). The number of small fibres was normal, presumably due to regeneration, since there were many "clusters" of small myelinated fibres. Fibres with demyelinated segments and onion-bulb formations were absent or rare and the endoneurial space was normal or slightly increased. Neither in the hypertrophic nor in the neuronal type did fibre loss occur selectively among the very largest fibres. Nine nerves from patients with hereditary spastic paraplegia and from a family with tremor and spasticity in addition to PMA showed changes similar in type but often milder in degree than nerves of the neuronal type of PMA. The number of unmyelinated fibres was normal in 12 of 21 nerves from patients with PMA; it was increased in 5 and diminished in 3 nerves.
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PMID:Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. 86 16

Percutaneously inserted spinal cord electrical stimulation (PISCES) was carried out in eleven intractable pain cases and in one spastic paraplegic case. The causes of intractable pain constitute subacute myelo-optic neuropathy (SMON) 6 cases, cerebrovascular disease 2 cases, multiple sclerosis (MS) 1 case, Charcot-Marie-Tooth (CMT) 1 case and transverse myelitis (TM) 1 case. The cause of spastic paraplegia was due to the ossification of posterior longitudinal ligament (OPLL). A trial stimulation was performed about two weeks before planning a permanent implantation of PISCES system. For the trial stimulation, epidural electrodes were percutaneously inserted with a guide of fluoroscopy in a X-ray room. The conditions of stimulation were adjusted to give an optimal electric dysesthesia. We employed pulse width 0.1-1.0 msec, pulse rate 1-120 Hz and pulse amplitude 0-10 Volt. If an excellent effect was obtained by trial study, we proceeded to the chronic implantation of PISCES system which were composed of epidural electrodes, a subcutaneous receiver and a surface antenna. The procedure of implantation was carried out in an operating room under local anesthesia. In our series, seven subjects (58%) experienced a rewarding effect by the trial stimulation and three underwent the permanent implantation of PISCES. We summarized the clinical courses of these three cases which were OPLL, CMT and SMON. Compared with the other methods for pain relief, PISCES is most characteristic in its safety and simplicity. To date, PISCES has been applied to various disorders; such as ataxia, spasticity, intractable pain, neurogenic bladder and peripheral vascular disease. But its efficacy has not been established in all these disorders.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Our experiences of PISCES (percutaneously inserted spinal cord electrical stimulation) in SMON and other neurologic disorders]. 661 Nov 63

Mutations in RAB18, a member of small G protein, cause Warburg micro syndrome (WARBM), whose clinical features include vision impairment, postnatal microcephaly, and lower limb spasticity. Previously, our Rab18-/- mice exhibited hind limb weakness and spasticity as well as signs of axonal degeneration in the spinal cord and lumbar spinal nerves. However, the cellular and molecular function of RAB18 and its roles in the pathogenesis of WARBM are still not fully understood. Using immunofluorescence staining and expression of Rab18 and organelle markers, we find that Rab18 associates with lysosomes and actively traffics along neurites in cultured neurons. Interestingly, Rab18-/- neurons exhibit impaired lysosomal transport. Using autophagosome marker LC3-II, we show that Rab18 dysfunction leads to aberrant autophagy activities in neurons. Electron microscopy further reveals accumulation of lipofuscin-like granules in the dorsal root ganglion of Rab18-/- mice. Surprisingly, Rab18 colocalizes, cofractionates, and coprecipitates with the lysosomal regulator Rab7, mutations of which cause Charcot-Marie-Tooth (CMT) neuropathy type 2B. Moreover, Rab7 is upregulated in Rab18-deficient neurons, suggesting a compensatory effect. Together, our results suggest that the functions of RAB18 and RAB7 in lysosomal and autophagic activities may constitute an overlapping mechanism underlying WARBM and CMT pathogenesis in the nervous system.
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PMID:Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B. 3072 47