An epidemiological survey of Charcot-Marie-Tooth disease (CMT) was conducted in Molise, a central-southern region of Italy, from March 1998 to June 2000. Fifty-eight cases of CMT in 13 unrelated families were identified within the selected area. The prevalence of all subtypes of CMT was 17.5/100,000. All families underwent a bio-molecular analysis to disclose the duplication at gene locus 17p11.2 in order to ascertain the diagnosis of CMT type 1A. Our data revealed that 64% of all the observed patients had CMT1A, thus confirming the high prevalence of duplication of the 17p11.2 locus.
Huntington's disease (HD) and dominant ataxias (SCA) represent neurodegenerative hereditary diseases dominantly transmitted for which a direct and accurate genetic test is now available for molecular confirmation and presymptomatic test. Predictive testing programs, according to published international guidelines, are available worldwide. A large number of subjects (n=165) required a predictive HD diagnosis, although only 36% completed the program flow-chart and received the final genetic result (26 had a positive, 34 negative result for mutation). In 4 cases, an allele of intermediate range (33-34 CAGs) was found. Two of these shared the intermediate allele with an expanded repeat. In this case, we estimated the patient's risk to have affected children over the usually reported 50%. In 4 cases, the presymptomatic diagnosis was requested by persons at-risk for SCA1 and SCA3/Machado-Joseph disease. There were no adverse events to results of both HD and SCA presymptomatic diagnoses.
Background: Migraine is a highly prevalent neurological disorders and a major individual and societal burden. Migraine is not curable at the present time, but it is amenable to acute symptomatic and preventive pharmacotherapies. Summary: Since the latter are frequently unsatisfactory, other treatment strategies have been used or are being explored. In particular, interventions targeting pericranial nerves are now part of the migraine armamentarium. We will critically review some of them, such as invasive and noninvasive neurostimulation, therapeutic blocks and surgical decompressions. Conclusions: Although current knowledge on migraine pathophysiology suggests a central nervous system dysfunction, there is some evidence that interventions targeting peripheral nerves are able to modulate neuronal circuits involved in pain control and that they could be useful in some selected patients. Larger, well-designed and comparative trials are needed to appraise the respective advantages, disadvantages and indications of most interventions discussed here.
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