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Background: Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare form of congenital myopathy, which is pathologically diagnosed by the presence of more than 99% of type 1 fiber, with no specific structural changes. Its pathogenic mechanism is still unknown. We recently reported that almost all patients with central core disease (CCD) with ryanodine receptor 1 gene (RYR1) mutations in the C-terminal domain had type 1 fibers, nearly exclusively, in addition to typical central cores.Objective: To investigate whether CNMDU1 is associated with RYR1 mutation.Methods: We studied 10 unrelated Japanese patients who were diagnosed to have CNMDU1 based on clinical features and muscle pathology showing more than 99% type 1 muscle fibers. We extracted genomic DNA from frozen muscles and directly sequenced all 106 exons and their flanking intron-exon boundaries of RYR1.Results: Four of 10 patients had a heterozygous mutation, three missense and one deletion, all in the C-terminal domain of RYR1. Two missense mutations were previously reported in CCD patients. Clinically, patients with mutations in RYR1 showed milder phenotype compared with those without mutations.Conclusion: Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) in 40% of patients is associated with mutations in the C-terminal domain of RYR1, suggesting that CNMDU1 is allelic to central core disease at least in some patients.(C)2007AAN Enterprises, Inc.

Objective: To provide evidence-based recommendations on the treatment of nervous system Lyme disease and post-Lyme syndrome. Three questions were addressed: 1) Which antimicrobial agents are effective? 2) Are different regimens preferred for different manifestations of nervous system Lyme disease? 3) What duration of therapy is needed?Methods: The authors analyzed published studies (1983-2003) using a structured review process to classify the evidence related to the questions posed.Results: The panel reviewed 353 abstracts which yielded 112 potentially relevant articles that were reviewed, from which 37 articles were identified that were included in the analysis.Conclusions: There are sufficient data to conclude that, in both adults and children, this nervous system infection responds well to penicillin, ceftriaxone, cefotaxime, and doxycycline (Level B recommendation). Although most studies have used parenteral regimens for neuroborreliosis, several European studies support use of oral doxycycline in adults with meningitis, cranial neuritis, and radiculitis (Level B), reserving parenteral regimens for patients with parenchymal CNS involvement, other severe neurologic symptomatology, or failure to respond to oral regimens. The number of children (>=8 years of age) enrolled in rigorous studies of oral vs parenteral regimens has been smaller, making conclusions less statistically compelling. However, all available data indicate results are comparable to those observed in adults. In contrast, there is no compelling evidence that prolonged treatment with antibiotics has any beneficial effect in post-Lyme syndrome (Level A).(C)2007AAN Enterprises, Inc.

Imaging for headaches is one of the most frequent and at times challenging decisions a neurologist has to make in the clinical practice of neurology and is complicated by today's medical-legal milieu and overseeing regulatory organizations. Although the final decision should always be made by the treating physician, the American Academy of Neurology has developed practice parameters for the imaging of headaches. One strong criticism of the overzealous use of neuroimaging in patients with headache is the frequency of incidental findings, which may in turn increase a patient's anxiety and potentially cause an exacerbation of symptoms. This may subsequently lead to unnecessary testing as well as neurosurgical intervention. The clinical interpretation of incidental findings and headaches is best made by a neurologist who is able to correlate the imaging findings with the patient's symptoms and examination. One of the principal precepts in medicine, "primum nil nocere" or "first, do no harm" to patients, should be considered in the interpretation of these so-called abnormalities. The development of programs to certify competence in physicians who have completed accredited training programs in neuroimaging as well as headache medicine by the United Council for Neurologic Subspecialties is an important advancement that allows clinicians the opportunity to enhance quality of patient care.(C) 2008 American Academy of Neurology

Structural brain imaging with CT or MRI should be performed in any patient with progressive cognitive impairment to rule out a reversible cause, such as a benign brain tumor, a subdural hematoma, or hydrocephalus. But imaging can also help separate the various types of degenerative dementia and facilitates the prognosis of these disorders. Medial temporal atrophy is an early finding in Alzheimer disease (AD). Early in AD, metabolism is decreased in the parietotemporal association cortex and retrosplenial region. When these imaging findings are present in mild cognitive impairment, it is more likely to evolve to AD. Amyloid deposition in AD and Lewy body dementia can now be imaged, differentiating these disorders from dementias without amyloid deposition, such as frontotemporal dementia and corticobasal degeneration. Atrophy or the decrease in brain metabolic activity associated with the dementias could be used as surrogate markers of response to new therapies in clinical trials.(C) 2008 American Academy of Neurology