ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Identification of new antigens in different patterns of Guillain-Barré syndrome has led to new pathophysiological concepts of Guillain-Barré syndrome and the related Miller-Fisher syndrome. Patients with Guillain-Barré syndrome occurring afterCampylobacter jejuniinfection have been found to develop more frequently axonal and motor forms of the syndrome. Anti-GM1 antibodies decreased Na+current in the presence of complement. In acute axonal Guillain-Barré syndrome, macrophages were found in the periaxonal space without damaging myelin sheath. Important epitopes may be localized on the axolemma, but further studies are needed to confirm these observations.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

There is a known coexistence between polyneuropathy and monoclonal gammopathy (immunoglobulin M, immunoglobulin G, immunoglobulin A). Antibodies to several glycoconjugates of the peripheral nervous system have been found in 50–65% of patients with immunoglobulin M monoclonal proteins, and distinct clinical syndromes have been recognized. However, if no antibodies are found, a relationship between monoclonal protein and polyneuropathy is still debatable. Therapeutic intervention is generally directed at removing the autoantibodies by reducing the number of monoclonal B-cells.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Electrophysiological studies remain one of the cornerstones in the diagnosis of Charcot-Marie-Tooth syndrome and related genetic neuropathies. They are helpful in defining the subtypes of this heterogeneous group of hereditary neuropathies and in differentiating them from acquired neuropathies. Major advances in defining the molecular genetics of Charcot-Marie-Tooth disease are occurring. The increasingly refined diagnosis of these disorders is highlighted. It is possible by the combination of electrophysiological studies and genetic testing. These developments are especially important for practicing neurologists as they can result immediately in more specific diagnosis of patients with inherited neuropathies.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Hereditary neuralgic amyotrophy with predilection for the brachial plexus is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies. Mildly dysmorphic facial features including hypotelorism, long nasal bridge and upslanting palpebral fissures are present in affected people in some pedigrees with this disease. The molecular basis of hereditary neuralgic amyotrophy is unknown and the specific gene which leads to it has not been identified. The feature of brachial neuropathy is shared with hereditary neuropathy with liability to pressure palsies, another autosomal dominant disorder which maps to chromosome 17p11.2–12 and may be clinically confused with hereditary neuralgic amyotrophy. Genetic studies have shown that the two diseases do not map to the same chromosomal region and are, therefore, genetically distinct disorders. Genetic linkage studies with polymerase chain reaction-based DMA markers in two large pedigrees recently localized the hereditary neuralgic amyotrophy gene to the distal long arm of chromosome 17 (17q24-qter).

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Deletion of the 1.5 Mb tract on chromosome 17p11.2–12 that is duplicated in Charcot-Marie-Tooth disease type 1A is commonly associated with hereditary neuropathy with liability to pressure palsies. The deletion, which originates from an unequal meiotic crossover involving two homologous repeats, causes underexpression of the peripheral myelin protein genePMP22. PMP22frameshift and non-sense mutations can be found in the rare nondeleted cases. Targeted disruption of thePMP22gene in mice has provided an animal model for the disease. Current studies are aimed at characterising the genetics of this chromosomal rearrangement and the pathogenic role of alteredPMP22expression.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Familial amyloid polyneuropathy is an hereditary amyloidosis related to several different genetic errors. It usually presents as a severe peripheral neuropathy. The protein most frequently involved in the disease is transthyretin, a serum transport protein synthesized primarily in the liver. Variable penetrance and variable clinical expression are widely described but the factors that influence such variability are largely unknown. Liver transplantation has been suggested as an effective treatment for this fatal condition. More than 146 patients have undergone this procedure and progression of the disease is halted after surgery. Therefore, it is thought that liver transplantation is an effective treatment for severe forms of familial amyloid polyneuropathy.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID

摘要:

Intravenous immunoglobulin is increasingly used in the treatment of neuromuscular disorders. Its efficacy has been proven in Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, and Lambert-Eaton myasthenic syndrome. In addition, there is increasing evidence that it has beneficial effects in other neuromuscular disorders.

ISSN:1350-7540    

出版商:OVID    

年代:1996

数据来源: OVID