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.
For a long time, neurological signs have also been known as a clinical hallmark of acute and chronic thiamine deficiency states (as in Gayet Wernicke encephalopathy), and of B12 deficiency states (as in pernicious anaemia in which subacute combined degeneration of the spinal cord is an almost constant finding.
Most of these neurological signs are fully to partially responsive to pharmacological doses of vitamin supplements.
More recently a subset of patients affected with progressive multiple sclerosis has been found to be dramatically and substantially responsive to biotin given at high pharmacological doses. Interestingly, an adult patient with biotinidase deficiency presenting with optic atrophy was first mistakenly diagnosed as having multiple sclerosis.
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..
LEARNING OBJECTIVES
- To learn absorption, transport and intracellular metabolic pathways of hydro soluble vitamins (B1, B6, Biotin, B12 and Folate).
- To learn the clinical presentations of the inherited disorders of these pathways mostly focusing on neurological presentations.
- To learn what is known on the vitamin B dependent metabolic processes involved in myelin synthesis, degradation and turnover.
- To learn the pathophysiology of neurological symptoms in neurodegenerative disorders with a known (as in pernicious anaemia or Gayet Wernicke encephalopathy) or unknown molecular mechanism (as the demyelinating process in multiple sclerosis).
- To design new investigations, metabolic markers and new therapeutic attempts in such neurodegenerative disorders.
Institutes of main organisers - providers
- University Children's Hospital Zurich, Eleonore Foundation, Zurich
- Pierre and Marie Curie University, Pitié-Salpêtrière hospital, Paris
Scientifc Organising Committee
- Prof. Matthias Baumgartner, Zurich
- Dr Fanny Mochel, Paris
- Prof. Jean-Marie Saudubray, Paris
Contact RRD Foundation
Cecilia Kellquist
Recordati Rare Diseases Fondation d'entreprise
Immeuble ‘Le Wilson’
70 avenue du Général de Gaulle
92800 PUTEAUX, France
Telephone : +33 1 47 73 86 11
Fax : +33 1 49 00 18 00
Email : ckellquist@rrd-foundation.org