GRANDIS , Marina

Charcot-Marie-Tooth (CMT), or heritable peripheral neuropathies, is among the most frequent genetic neuromuscular disorders, with a prevalence of approximately 1:2500. Since 1991, remarkable advances have occurred in determining the precise genetic cause of many forms of CMT and in generating animal models of many of these disorders. However,...

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Guillain-Barré syndrome (GBS) is an acute, immune-mediated polyradiculoneuropathy, usually triggered by an infectious episode, mostly of viral origin. Varicella zoster virus (VZV) is a rare cause of GBS, mainly in the case of latent infection reactivation. We report on three adult patients who developed GBS following chickenpox, after a short...

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Mutations in the small heat-shock protein 27 kDa protein 1 (HSPB1) and 22 kDa protein 8 (HSPB8) genes were associated with distal hereditary motor neuropathy (dHMN) and with the axonal form of Charcot-Marie-Tooth disease type 2 (CMT2). Here we report the clinical and molecular evaluation of an Italian dHMN and CMT2 cohort to establish HSPB1 and...

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Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot–Marie– Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ role in the pathogenesis of both demyelinating and axonal inherited neuropathies was evaluated in the Italian population by...

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