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Rare Neurometabolic and Neurogenetic Diseases in Adult

10/09/2009 - 11/09/2009

10/09/2009

AULA-MAGNA

10/09/2009

14:30 - 17:00
A general overview on rare diseases

Taruscio D.
European Project for Rare Diseases National Plans Development (EUROPLAN) and the Italian actions on rare diseases

Bianchi F., A. Pierini
The Tuscany network and registry for rare diseases

Gambardella A.
The diagnosis of rare diseases in the south of Italy: experience of the CNR Institute of Neurosciences

Federico A.
The clinical and laboratory approach to rare neurological diseases

Lyon-Caen O., F. Sedel
Inborn errors of metabolism in adult neurology: a clinical approach

17:30 - 18:30
Update on Mitochondrial encephaloneuromyophaties

Vallat J.M.
Neuropathies induced by mitochondriopathies

Zeviani M.
Novel pathogenetic mechanisms in mitochondrial disorders

11/09/2009

AULA-MAGNA

11/09/2009

11:15 - 12:15
Update on late onset Leukodystrophies

Giordana M.T.
Adult-onset non-metabolic leukodystrophies

14:30 - 15:30
Update on myopathies

Fardeau M.
LGMD with Calpain 3 deficiency: past and present

Angelini C.
Natural history of calpainopathy and dysferlinopathy

15:30 - 16:30
Update on Charcot-Marie-Tooth disease

Fabrizi G.M.
Charcot-Marie-Tooth disease: (too) many genes for several neuropathies

Schenone A.
CMT1A and 1B: from molecular pathomechanisms to therapy

16:30 - 17:30
Update on dysimmune chronic neuropathies

Nobile-Orazio E.
CIDP and its variants

Léger J.M.
Neuropathies associated with monoclonal gammopathies

17:30 - 18:30
Update on treatable Neurometabolic genetic diseases

Borsini W., S. Büchner
Focus on Fabry's disease

Federico A.
Focus on Cerebrotendinous Xanthomatosis

Sedel F.
Focus on Niemann Pick C disease

Comi G.P.
Gene therapy in Muscular dystrophy