|
|
Continuum,
April 2005,
Volume 11,
Issue 2
| Key Points for Issue. (pdf) |
|
faculty.
(PDF only)
|
|
introduction.
- Paulson, Henry
|
|
genetic testing in neurology.
- Nance, Martha, Paulson, Henry
>
Show/Hide Abstract
The fruits of the Human Genome Project and the Decade of the Brain have been harvested, and tests for a growing number of neurogenetic disorders are now available for clinical use. In this chapter, the use of gene tests in neurological practice will be reviewed, emphasizing the implications and complications of testing that may be unfamiliar to neurologists. Clinical testing vignettes are presented, along with some of the challenges and ethical dilemmas they can present. Useful written and internet resources are also provided.(C) 2005 American Academy of Neurology
|
|
genetics of neuropathy.
- Shy, Michael, Krajewski, Karen
>
Show/Hide Abstract
Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies also known as Charcot-Marie-Tooth disease (CMT). More than 33 different genes have been shown to cause inherited neuropathies. Chromosomal localization of many other distinct inherited neuropathies has been mapped, and new genetic causes for inherited neuropathies continue to be discovered. How to keep track of all of these disorders, when to decide to pursue genetic testing, and what tests to order for specific patients are difficult challenges for any neurologist. In this review, these issues are addressed and illustrative cases are provided to help in dealing with them. CMT can serve as a living microarray system to identify molecules necessary for normal peripheral nervous system (PNS) function. When investigators understand how these various molecules interact, the pathogenesis of peripheral neuropathies in general, as well as of other neurodegenerative disorders involving the PNS, will be better understood.(C) 2005 American Academy of Neurology
|
|
genetics of repeat expansion diseases.
- Paulson, Henry
>
Show/Hide Abstract
Expansions of DNA repeats have taken center stage in neurology as the cause of many important inherited diseases. This chapter reviews these disorders, now numbering over 20, and highlights their diverse clinical features and pathogenic mechanisms. While most are caused by expanded repeats of three nucleotides (the so-called trinucleotide repeat diseases), several are caused by expanded repeats of 4, 5, or even 12 nucleotides. The clinical findings and pathogenic mechanisms of these diseases differ depending on many factors, including the size and sequence of the expanded repeat, the location of the repeat in the disease gene, and the function and expression pattern of the disease gene or protein. Although much still needs to be learned about this continually growing group of disorders, genetic testing is straightforward: repeat expansions can be diagnosed by simple, inexpensive, DNA-based tests that are highly sensitive and specific.(C) 2005 American Academy of Neurology
|
|
genetics of epilepsy.
- Chyung, Abraham, Ptacek, Louis
>
Show/Hide Abstract
Epilepsy is characterized by recurrent seizures. Conceptually, an epileptic seizure begins with abnormal electrical activity of a single neuron. Seizure propagation, however, relies on the properties of the circuit. The circuit of interest is the network of interconnected neurons in the human brain. Accordingly, the seizure threshold is determined by changes affecting this circuit from the level of individual neurons to the network itself. Over the past 2 decades, genetic research has provided new insight into previously unrecognized molecular mechanisms of epileptogenesis. A large number of genetic disorders are recognized to cause recurrent seizures. This review will discuss some of those disorders, highlighting the epilepsy-related genes that have been identified.(C) 2005 American Academy of Neurology
|
|
genetics of muscle disease.
- Mathews, Katherine
>
Show/Hide Abstract
The inherited myopathies are a diverse group of disorders. The understanding of these diseases has grown dramatically in the past 10 years as a result of the rapidi dentification of causative genes. Two of the largest classes of inherited myopathies are the muscular dystrophies and the morphologically defined myopathies, including congenital myopathies. These diseases are typically diagnosed with either genetic testing or muscle biopsy. Treatment is supportive but involves management of multiple systems, including skeletal, cardiac, and respiratory systems.(C) 2005 American Academy of Neurology
|
|
genetics of inherited ataxias.
- Subramony, S.
>
Show/Hide Abstract
This review outlines a clinically oriented approach to patients with suspected inherited ataxias. Knowledge regarding inherited ataxias is advancing at a rapid rate and has resulted in the identification of a surprisingly large number of gene mutations that cause these syndromes. Genetic discoveries have in turn led to increasing understanding of pathogenesis, and broad themes appear to be evolving, such as mechanisms related to oxidant stress, DNA break repair defects, toxic gain of function of mutated proteins, and dysfunction of channel proteins. The phenotypes of the inherited ataxias are discussed, and approaches to diagnosis and management are suggested in this chapter.(C) 2005 American Academy of Neurology
|
|
genetics of human brain malformations.
- Clark, Gary
>
Show/Hide Abstract
Genetic insights into the development of the mammalian brain have changed the way neurologists treat and diagnose patients with brain developmental disorders. This chapter will review of the formation of the human brain and the disorders that result from disturbances in this development. The genetic consequences of presenting a diagnosis of a brain malformation to the child and family are considerable, and it is important that neurologists understand these disorders in order to advise patients and families accordingly.(C) 2005 American Academy of Neurology
|
|
appendix: aan practice parameter: genetic testing alert.
(PDF only)
|
|
index.
(PDF only)
|
|
multiple-choice questions.
|
|
patient management problem.
|
|
preferred responses.
|
|
list of abbreviations.
|
The AAN is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical
education (CME) for physicians.
The AAN designates this educational activity for a maximum of 10 American Medical Association (AMA) Physician Recognition Award
(PRA) Category 1 Credits™. Physicians should claim only those hours of credit that they actually spend in the educational activity.
Per AMA PRA guidelines, only US and licensed international physicians may be awarded AMA PRA Category 1 Credit certificates. The
AAN will issue certificates of participation to non-MD/DO health professionals indicating that the activity was designated
for AMA PRA Category 1 Credit.
The American Board of Psychiatry and Neurology has reviewed
Continuum: Lifelong Learning in Neurology® and has approved the product as part of a
comprehensive lifelong learning program, which is mandated by the American Board of Medical Specialties
as a necessary component of maintenance of certification.
Andrea Weiss
Associate Publisher, AAN Enterprises, Inc.
Managing Editor, Continuum and Quintessentials
aweiss@aan.com
(651) 695-2742
|
|
