1/18. Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/18. Myotonic pupils in charcot-marie-tooth disease. Successful relief of symptoms with 0.025% pilocarpine.Twenty-seven members of a family with dominantly inherited charcot-marie-tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine. Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family. Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.- - - - - - - - - - ranking = 0.49060537799997keywords = nervous system (Clic here for more details about this article) |
3/18. Transient central nervous system white matter abnormality in X-linked charcot-marie-tooth disease.X-linked charcot-marie-tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene. Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. We have evaluated two male patients with CMTX who on separate occasions developed transient ataxia, dysarthria, and weakness within 3 days of returning from ski trips at altitudes above 8,000 feet. magnetic resonance imaging studies in both patients showed nonenhancing, confluent, and symmetrical white matter abnormalities that were more pronounced posteriorly and that resolved over several months. Magnetic transfer images in one patient demonstrated increased magnetization transfer ratios distinct from that seen in demyelination or edema. Both patients returned to their normal baseline within 2 to 3 weeks. These cases suggest that CMTX patients are at risk for developing an acute, transient, neurological syndrome when they travel to places at high altitudes and return to sea level. Cx32 mutations may cause central nervous system dysfunction by reducing the number of functioning gap junctions between oligodendrocytes and astrocytes, making both cells more susceptible to abnormalities of intercellular exchange of ions and small molecules in situations of metabolic stress.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/18. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked charcot-marie-tooth disease.OBJECTIVES: To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked charcot-marie-tooth disease (CMTX) patients. MATERIAL AND methods: We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS: One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. CONCLUSION: These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/18. Transient, recurrent, white matter lesions in X-linked charcot-marie-tooth disease with novel connexin 32 mutation.BACKGROUND: X-linked hereditary demyelinating neuropathies (charcot-marie-tooth disease [CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for approximately 10% to 20% of all hereditary demyelinating neuropathies. Mild subclinical central nervous system (CNS) involvement has been previously described, and CMTX patients with transient white matter lesions allied to CNS symptoms have very recently been described. This is of potential interest, as Cx32 is widely expressed in both peripheral nerve and the brain. patients: We describe a family with hereditary demyelinating neuropathy and transient CNS symptoms. For this study, family members underwent genotyping and detailed clinical, electrophysiological, and magnetic resonance imaging examination. RESULTS: We present a CMTX family with a novel mutation in the Cx32 gene. Affected family members show, in addition to the classic polyneuropathy, transient and reversible white matter lesions on magnetic resonance imaging scans, correlating similarly transient CNS symptoms. CONCLUSION: patients with CMTX can present with transient CNS symptoms and marked white matter lesions on magnetic resonance imaging scans.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/18. gait rehabilitation in a patient affected with charcot-marie-tooth disease associated with pyramidal and cerebellar features and blindness.Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/18. optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome.We report on a 41-year-old woman with slowly progressive motor dominant polyneuropathy, optic atrophy and sensorineural deafness, but without any known familial feature. These neurological manifestations were in accordance with the syndrome reported by Rosenberg and Chutorian in 1967 (Rosenberg-Chutorian syndrome), a unique form of charcot-marie-tooth disease. The syndrome was first reported to be autosomal dominant in trait, but subsequently recessive forms and sporadic ones have also been described. Nerve biopsy and neurophysiological studies including electromyography, nerve conduction velocities, somatosensory evoked potentials, auditory brainstem responses, and visual evoked potentials revealed the axonopathic involvement of the central nervous system as well as the peripheral nervous system. Since neurophysiological aspects of this particular syndrome have not been well studied, these results would provide some insight into the understanding of this disorder.- - - - - - - - - - ranking = 1.490605378keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/18. brain white matter lesions in an italian family with charcot-marie-tooth disease.Type 1A, the most common form of Charcot-Marie-Tooth (CMT1A) disease, is characterized by demyelination of the peripheral nervous system. So far, only a few cases of the disease with concomitant brain white matter lesions have been described. We report an Italian family with CMT1A disease, consisting of the proband and 4 affected members, presenting with concomitant brain white matter lesions at magnetic resonance imaging. The association is particularly fascinating and might depend on an autoimmune mechanism, not yet clarified.- - - - - - - - - - ranking = 0.49060537799997keywords = nervous system (Clic here for more details about this article) |
9/18. Triptan use preceding life-threatening arrhythmias in charcot-marie-tooth: a case report and review of the literature.Charcot-Marie-Tooth (CMT) identifies a rare group of inherited disorders of the peripheral nervous system that share clinical features of sensory and motor defects, but rarely affect cardiac function. The few references that relate CMT to cardiac pathology of any sort are so rare that their finding was considered either fortuitous or suggestive of an erroneous diagnosis. The 5-HT1B/1D agonists or triptan drug class was introduced to the clinical practice arena in the early 1990s, and since then several cardiac adverse events have been associated with its use. The authors report the case of a 41-year-old white woman with CMT who had been recently prescribed sumatriptan and who presented with sudden loss of consciousness associated with ventricular fibrillation. These findings have been reported in the literature, but the association of triptan-induced arrhythmias and degenerative neuropathies remains to be established. The authors propose, through this case report and review, that the relative rarity of CMT coupled with the lack of further investigation of their association with conduction abnormalities might have set the stage for underestimation of the potentially synergistic effect with triptans in their capacity to generate life-threatening arrhythmias.- - - - - - - - - - ranking = 0.49060537799997keywords = nervous system (Clic here for more details about this article) |
10/18. Ultrastructural and immunohistochemical similarities of two distinct entities; multiple sclerosis and hereditary motor sensory neuropathy.In the present study, we present the ultrastructural and immunohistochemical properties of the sural nerves of two patients, one of whom was diagnosed as having multiple sclerosis with involvement of the peripheral nervous system (PNS), and the other as having hereditary motor sensory neuropathy type-I with involvement of the central nervous system (CNS). Expression of several extracellular matrix (ECM) proteins (fibronectin, laminin, and collagen type-IV), intermediate filaments (vimentin) and S-100 protein (marker for the axon-Schwann cell interface) was investigated by means of immunohistochemical methods. In addition, the tissue samples were evaluated ultrastructurally. Immunohistochemical staining revealed increased expression of the ECM molecules mentioned above in relation with the sural nerves of the patients. We hypothesize that this enhanced expression is due to Schwann cell-axon interactions. vimentin expression was different in schwann cells and S-100 immunostaining was decreased near the Schwann cell-axon interface. Myelin fragmentation, axon vacuolization, onion bulbs, tomoculous formation, axonal degeneration were found to occur. These results suggest that there is active ECM reorganization in the sural nerve of these patients, and some ultrastructural changes are similar in the damaged axonal organization and in schwann cells although the changes are not completely the same in the two patients. In conclusion, our study demonstrates that there is an association between the demyelinization process in the CNS and the PNS even though they are affected by different mechanisms.- - - - - - - - - - ranking = 1.490605378keywords = central nervous system, nervous system (Clic here for more details about this article) |
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