Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.

Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the EPM2A or NHLRC1/EPM2B genes that usually appears during adolescence. The Epm2a and Epm2b knock-out mouse models of the disease develop behavioral and neurological alterations similar to those observed in patients. The aim of this work is to analyze whether early treatment with metformin (from conception to adulthood) ameliorates the formation of Lafora bodies and improves the behavioral and neurological outcomes observed with late treatment (during 2 months at 10 months of age).

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either encoding the glycogen phosphatase laforin, or , encoding the E3 ligase malin, cause LD. Whole exome sequencing has revealed many variants associated with late-onset or slower disease progression.

Incomplete cavernous sinus syndrome as the initial manifestation of a previously undetected metastatic prostate adenocarcinoma.

Background: Cavernous sinus syndrome presents as unilateral ophthalmoplegia associated with sympathetic denervation, pain, paresthesias, and V1 and V2 distribution numbness. The etiology may be vascular, inflammatory, infectious, and, less commonly, neoplastic (metastatic).

Methods: We report a patient with incomplete cavernous sinus syndrome as the initial manifestation of previously undetected metastatic prostate adenocarcinoma.