A pediatric case of Miller Fisher syndrome with central involvement.

no abstract availabl

Scientific research of Italian neurologists from 2008 to 2011.

Quantifying the number of publications is the easiest way to estimate the scientific production of a country in any scientific field. The aim of this article is to provide information about the scientific production from 2008 to 2011 of Italian neurologists and to compare it with scientific production data of other countries. The analysis regarded the research in Web of Science, in the Subject Category Clinical Neurology, of the publications published from 2008 to 2011, with at least one Italian author belonging to a scientific Italian institution. The overall data, their quality and scientific impact were compared with those of the first 15 world countries for scientific production. We observed that even if the Gross National Product of Italy registered a slight and gradual reduction from 2008 to 2011, the neurological scientific production of Italian neurologists showed an increase in the number of papers, maintaining the fifth position in these four years after USA, Germany, England and Japan. Moreover, dividing the neurological journals in quartiles according to the impact factor, we observed constant increase of the numbers of Italian publications in the highest quartile journals during the considered period. These data suggest that from 2008 to 2011 Italian neurologists have increased the number of publications, also improving the quality of works

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

Genetic germinal and somatic mosaicisms of dominant Charcot-Marie-Tooth disease (CMT) mutations are rarely reported and/or recognized. We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. The 29-year-old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy (pes cavus, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (SNAPs). Authors suggest that mutations of CMT-related genes which originate in post-zygotic stages may be associated with mild phenotypes of peripheral neuropathy