MIAMI BEACH – The following are late-breaking scientific abstracts that will be presented during the American Academy of Neurology 57th Annual Meeting held in Miami Beach, Fla., April 9 – 16, 2005.
Rufinamide Reduces Seizures in Treatment-Resistant Lennox-Gastaut Epilepsy
Lennox-Gastaut Syndrome is a catastrophic form of childhood epilepsy that is often resistant to treatment with conventional anti-seizure medications. In this trial, 138 patients with treatment-resistant LGS received either the novel drug rufinamide or placebo for 12 weeks. Rufinamide reduced monthly seizure frequency by 33 percent, compared to 12 percent for placebo, and was especially beneficial in patients with so-called tonic-atonic seizures. Sleepiness and vomiting were important drug side effects. This study provides support for use of the drug in LGS patients whose symptoms are not well controlled by other medications.
New Gene for Charcot-Marie-Tooth Disease Involved in Cell Transport
Charcot-Marie-Tooth disease (CMT), which affects the peripheral nerves, comes in several forms and is due to mutation in a variety of genes. Autosomal dominant CMT of the so-called intermediate form has previously been linked to chromosome 19. In this study, an international team of researchers identified the responsible gene as Dynamin 2 (DNM2), whose protein helps cell membranes fuse together and separate. The mutation, found in several families from North America, Australia, and Belgium, impairs a variety of critical cell transport processes. In addition, neutropenia, a white blood cell disorder, was found to be inherited along with the disease, which has not been seen in CMT families before. The same protein function that is impaired by the mutation--the ability to bind a high-energy molecule called CTP--is also impaired by other CMT gene mutations, suggesting this may be a central pathway for a large class of peripheral neuropathies.
New Parkinson's Disease Gene Mutation is Very Common in North Africa
The newest gene for Parkinson's disease, LRRK2, is proving to be a very common cause of familial PD. Recent studies have shown it is responsible for up to 6 percent of familial cases in North America and Europe. In this study, researchers found that 41 percent of autosomal dominant PD in North African patients were due to a single mutation in the gene, which is also the most common mutation in other populations. As has been seen in other populations, younger mutation carriers were less likely to be affected, indicating the existence of age-dependant penetrance for the gene mutation.
The late-breaking science will be presented during a poster session at 7:30 a.m. on Tuesday, April 12 in Hall A of the Miami Beach Convention Center. For abstract copies, please contact the AAN Press Room.
Source: Eurekalert & othersLast reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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