Recommendations for pneumococcal vaccination in adults have been updated in the hopes not only of preventing more cases of invasive pneumococcal disease but also of making the recommendations simpler and easier to follow.
View Article and Find Full Text PDFFriedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration sense with onset before 25 years. While several atypical forms of FRDA are recognized, profound vision deficit is rare. We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.
View Article and Find Full Text PDF