Inherited Vitamin Responsive Disorders: to the rescue of the Neurodegenerative Diseases, 2018
This course is firstly dedicated to adult and paediatric neurologists, to specialists in biochemical genetics and to nutritionists interested in the nutrition role of B vitamins. Primary end point of the course is to make a bridge between neurologists faced with unexplained and untreatable neurodegenerative disorders and metabolic specialists familiar with rare genetic vitamin responsive disorders.
Severe neurological presentations are major clinical findings in patients with inherited disorders of group B vitamins (B1, B6, Biotin, B12 and Folate). These include developmental delay, myelopathy, peripheral neuropathy , spasticity, truncal ataxia and cerebral atrophy, subacute combined degeneration of the spinal cord, optic atrophy, ataxia, long-tract signs and dementia, retinal degeneration, choreoathetosis, intractable epilepsy progressive neurological deterioration with seizures and sometimes with intracranial calcifications and demyelination.