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X-linked Charcot-Marie-Tooth disease (CMTX) is an hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, found in Schwann cells, but also expressed in oligodendrocytes. Reports have identified CNS involvement in CMTX, but no systematic study of cognitive function has been published.
Methods:
We assessed 24 CMTX patients (13 males; 9GJB1 mutations) with a comprehensive neuropsychological battery, including tests of memory, language, and executive functions.
Results:
No differences in cognitive performance were observed between males and females. A case-by-case investigation revealed selective deficits in individual patients. One subgroup (29%) demonstrated executive abnormalities; and a non-overlapping subgroup (29%), prominent reading (decoding) abnormalities.
Conclusions:
The present data provide evidence for cognitive deficits in CMTX. Emerging neuropsychological patterns are also discussed.
This chapter investigates the complex relationship of stroke with fungal pathogens like aspergillus, mucor, candida, cryptococcus and other fungi. Among fungal pathogens, aspergillus is most likely to present as a stroke or stroke-like syndrome. Pathologically there were multiple areas of cerebral infarction with thrombosis due to Aspergillus invasion of arteries. Like Aspergillus, Mucor species are angioinvasive and can cause stroke through, bland infarction, and vascular thrombosis. Candida is not an angioinvasive pathogen, and reports of stroke after candida infection are distinctly uncommon. Like candida species, cryptococcus is not angioinvasive. Cryptococcus neoformans is an encapsulated yeast. A variety of less common fungi that can rarely infect immunocompromised patients include fusarium (a septate mold), Trichosporon (a pathogenic yeast), paecilomyces, pseudallescheria, Scopulariopsis, and the endemic fungi (coccidioides immitis, histoplasma capsulatum). Reports of central nervous system (CNS) involvement or stroke like syndromes are limited with these less common fungi.
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