TUBULINOPATHIES

Brain development is a process that requires the control of neural progenitor cells. These particular cells follow three sequential processes: the proliferation, the migration into particular segments of the neural cortex, and their differentiation into a particular sub-type of neuronal cell. Any defect affecting one of these three processes damages the proper development and functioning of the brain. Furthermore, recent studies have shown that the malfunctioning of the cellular cytoskeleton (the scaffold that supports the cell) during mitosis (cell division, coordinated by the predominant action of proteins named Tubulines) can be the cause of a series of brain defects or malformations (defined as "tubulinopathies"). These essentially develop in defects of progenitor cell migration, developmental defects in the axon and dendrite (structures of the neuron for the transmission of impulses to adjacent cells) and damages that affect the vitality of the neurons themselves.

These defects are generally summarised in the development of an under-sized brain called "Microcephaly", which will produce mental retardation in the first years of life.(*)

(*) Extract of a work published in the prestigious international magazine "Brain",

Oxford, Journal of Neurology by Prof. Massimo Zollo and his team

 

USEFUL DOCUMENTS

In this section, we report documents and links that can be useful to navigate the complex world of disability:  

INPS -People with disabilities and handicap 

Ravenue Agency - Discounts for people with disabilities

 

Rare Diseases - Guide to new exemptions  

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