摘要:

BACKGROUND– Peripheral neuropathy may result from diverse genetic causes. In recent years molecular diagnostic methods have clarified the relationships between many of these different causes and their resultant clinical phenotypes.REVIEW SUMMARY– Charcot-Marie-Tooth neuropathy type 1 (CMT 1) (demyelinating CMT) is most commonly associated with a duplication on chromosome 17 (CMT 1 A) and, less frequently, with point mutations within the myelin gene PMP22 (on chromosome 17) or in the myelin protein zero (Po) (on chromosome 1; CMT 1B). Hereditary neuropathy with liability to pressure palsies results from a deletion on chromosome 17p, which is reciprocal to the duplication seen in CMT 1A patients. Dejerine-Sottas disease is a less common, severe, demyelinating neuropathy that has been associated with mutations in either PMP22 or Po. X-linked CMT is associated with mutations in the connexin 32 gene. No candidate genes have been identified in CMT 2, but at least three different forms have been identified by genetic linkage analysis. These forms map to chromosomes 1p, 3, and 7. Refsum's disease, resulting from abnormalities of phytanic acid metabolism, is an autosomal recessive cause of demyelinating neuropathy. Familial amyloid neuropathy (FAP) is a less frequently diagnosed cause of hereditary neuropathy. In many cases, FAP arises from mutations in the transthyretin protein and may be treatable with liver transplantation. Mitochondria) DNA mutations may also lead to peripheral neuropathy, but usually in the context of more generalized mitochondrial illness.CONCLUSIONS– Understanding of the molecular genetics of neuropathies has facilitated patient care by providing direct methods for confirming the diagnosis. This should eventually lead to improved therapy for each particular disorder.

ISSN:1074-7931    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

BACKGROUND– Sudden, unexpected death is a problem of major importance, but very little is known about its cause.REVIEW SUMMARY– Of the many sudden death syndromes, in only one (sudden, unexplained death in middle-aged men) has a likely pathogenesis been clarified; namely, functional cardiac arrest due to ventricular arrhythmia. Electrocardiographic abnormalities have been known to occur in the context of neurologic disease for a long time. These changes fall into two categories: arrhythmias and repolarization changes. It is now believed that these changes represent one end of a spectrum of pathologic physiology, which can alter cardiac repolarization, predispose a patient to sudden death, and/or produce a characteristic form of cardiac damage known as myofibrillar degeneration or contraction band necrosis. This lesion can be caused by four classes of etiologies: catecholamine infusion, stress plus or minus steroids, nervous system stimulation, and reperfusion. These four apparently disparate etiologies are tied together by a common thread, the essential feature of which is sympathetic overactivity with secondary catecholamine toxicity.CONCLUSIONS– A unifying hypothesis is proposed to explain all the forms of sudden death based on the anatomic connection between the nervous system and the heart and lungs.

ISSN:1074-7931    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

BACKGROUND– Essential tremor is one of the most common movement disorders encountered in clinical practice. Patients with this disorder have action tremors of the upper limbs and, in some cases, of the head, voice, jaw, face, tongue, legs, and trunk. Essential tremor can be inherited as an autosomal dominant characteristic or can occur sporadically. It may cause significant disability and handicap. The efficacy of treatment for essential tremor is reviewed.REVIEW SUMMARY– The neurologist must have a therapeutic strategy for patients with essential tremor because the condition is frequently encountered in clinical practice. Furthermore, the data supporting that strategy and, thus, choice of treatment need to be carefully evaluated so that practice is evidence-based. The results of previous clinical trials are presented in this review, along with a conceptual framework for assessing their clinical relevance.CONCLUSION– Although propranolol and primidone are established treatments for essential tremor, the evidence for their efficacy is largely obtained from accelerometric studies. The marked improvement in tremor detected in the accelerometric studies of these drugs does not necessarily translate to an improvement in the disability and social handicap experienced by patients. In fact, there presently is scant evidence to suggest that these drugs have much influence on patients' lives, and further research aimed at establishing the influence of medication on tremor-induced disability, handicap, and quality of life is clearly required. The alternative to medication is stereotactic surgery, which can without doubt influence disability but has potentially serious consequences. Those disabled tremulous patients who respond poorly to drugs are thus faced with the dilemma of whether to take the risks involved with surgery or to continue taking medications, which also have significant side effect profiles. Nevertheless, many essential tremor patients seem to cope admirably with the help of either primidone, propranalol, or both.

ISSN:1074-7931    

出版商:OVID    

年代:1997

数据来源: OVID

摘要:

BACKGROUND– During the acute management of stroke, there are numerous rehabilitation medicine issues that must be addressed to maximize functional recovery.REVIEW SUMMARY– If not recognized and prevented, secondary complications related to the primary neurologic deficit after stroke can slow or limit a patient's rehabilitation and functional recovery. Prophylactic measures and management of the common complications that limit patients after acute stroke care are discussed, including venous thromboembolism, decubitus ulcers, bowel and bladder regulation, aspiration and pneumonia, and malnutrition. Facilitation of recovery includes techniques promoting mobilization, performance of self-care activities of daily living, and earlier communication in patients with aphasia. Determination of rehabilitation needs after acute stroke care is discussed in the final section.CONCLUSION– This review article gives the neurologist a better understanding of potential complications during the acute stroke period, techniques to facilitate early recovery, and guidelines for assessing rehabilitation needs after acute care.

ISSN:1074-7931    

出版商:OVID    

年代:1997

数据来源: OVID