摘要:

BACKGROUND- Adults are affected by many forms of muscular dystrophy. New genetic classifications are changing traditional diagnostic categories. This review focuses on a spectrum of muscular dystrophies seen in adults and their recognition.REVIEW SUMMARY- Muscular dystrophies are traditionally classified by inheritance patterns, distribution of muscle weakness, and clinical course. Advances in genetics and molecular biology are improving our understanding of disease mechanisms and creating new diagnostic categories of limb-girdle muscular dystrophies. We are finding that phenotypic expression is heterogeneous, despite homogeneous genotypes. Many muscular dystrophies may not be recognized until late adulthood, or only after a tragic event, such as sudden death or fetal loss. Laboratory investigation helps to differentiate the muscular dystrophies, but molecular biology is proving invaluable for confirming clinical suspicions. There are still relatively few effective treatments.CONCLUSION- Neurologists need to remain knowledgeable about the new classifications in muscular dystrophies, the diversity of muscular dystrophy in adults, and how to plan an efficient evaluation. We will continue to see genetics provide hope for the better understanding and treatment of muscular dystrophy.

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

BACKGROUND- Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder. Affected individuals develop pigmentary abnormalities, benign and malignant tumors, and abnormalities of the vascular, skeletal, and nervous systems. Over the past 10 years, significant progress has been made in our clinical and basic science understanding of NF1.REVIEW SUMMARY- The diagnosis of NF1 follows clear diagnostic criteria. The management and treatment of NF1 is complex and often requires a multidisciplinary approach. The clinical features of NF1 are discussed in detail and recommendations for the care and treatment of individuals affected with NF1 are addressed. Finally, the issue of genetic testing for individuals at risk of NF1 is discussed.CONCLUSIONS-This review should provide the practicing neurologist with a basic understanding of the clinical issues that surround the management and treatment of individuals affected with NF1. Ideally, individuals suspected of having NF1 based on the criteria discussed in this review should be referred to clinical programs subspecializing in the care of individuals with NF1.

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

BACKGROUND- Since the recognition of the inherited nature of many progressive ataxic syndromes by Friedreich and Marie in the last century, clinicians and pathologists have tried to understand the complexity of the clinical features and the underlying pathogenesis of these disorders. However, it has taken the power of reverse genetics within the last decade to identify the numerous genetic abnormalities that underlie such syndromes and point a way toward true understanding of the causes of neuronal death. There is increasing hope for useful therapeutic measures.REVIEW SUMMARY- An orderly approach to patients with progressive ataxic syndromes can result in the identification of the specific disorder involved in many instances and the exclusion of disorders that can mimic inherited ataxias as well as treatable diseases. Within the last decade, various inherited ataxias have been linked to more than a dozen different chromosomal loci and, in most, the gene mutation itself has been identified, allowing simple molecular tests for precise genotypic diagnosis. Although the clinical features of these illnesses overlap to such a degree that the identification of the underlying genotype from clinical or pathological features alone may be often difficult, the broad genotype-phenotype correlations summarized in this article will allow a more rational approach to the genetic tests available. The management of these disorders remains supportive and symptomatic, but the identification of the genotype allows better genetic counseling and the possibility of predictive testing. There is also increasing understanding of the possible pathogenesis of selective neuronal degeneration in the inherited ataxias.CONCLUSIONS- There has been a virtual explosion in our knowledge regarding the gene mutations responsible for the inherited ataxias. However, a number of additional genotypes remain unidentified. Understanding of the molecular pathogenesis of these disorders may rapidly lead to useful treatment options.

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

BACKGROUND- Cocaine continues to be a significant public health problem. It is an important cause of hemorrhagic cerebrovascular disease. Cerebral aneurysms/arteriovenous malformations are often found at the time of intracranial hemorrhage associated with cocaine use. We report a patient with multiple unruptured, asymptomatic cerebral aneurysms who had consumed cocaine hydrochloride on a regular basis and discuss the possible role of cocaine in cerebral aneurysm formation.REVIEW SUMMARY- A 39-year-old man with long-standing intranasal cocaine hydrochloride abuse presented with left lower extremity weakness, initially presumed to be secondary to a stroke. Neurological examination demonstrated an L5 radiculopathy. A noncontrast-enhanced computed tomography scan of the head, performed because of the initial clinical impression, revealed circular hyperdensities in the right and left M1 segments of the middle cerebral artery. Conventional cerebral angiography demonstrated three large intracranial aneurysms.CONCLUSIONS- Based on published cases and series to date, approximately 70% of patients with cocaine hydrochloride-related ischemic strokes and 70% of patients with cocaine hydrochloride-related intracerebral hemorrhage have an underlying cerebral aneurysm or arteriovenous malformation. Because cocaine blocks neuronal reuptake of norepinephrine and increases catecholamine receptor sensitivity, the sympathetic hyperactivity and transient, often severe, hypertension produced may be the initial events leading to aneurysm formation from repeated episodes of transient cerebral vasoconstriction and subsequent vascular injury. Histopathological data show that repeated surges of excessive catecholamines may lead to damage and eventual necrosis of inner arterial walls with eventual disappearance of the elastic lamina. The use of noninvasive cerebrovascular screening tests in asymptomatic patients who abuse cocaine has demonstrated reversible cerebral vasoconstriction and may provide new insights into the mechanisms of cocaine-related stroke.

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:1074-7931    

出版商:OVID    

年代:1998

数据来源: OVID