Syndromes parkinsoniens rares de causes héréditaires

Parkinsonism has been found in numerous hereditary metabolic or rare diseases. Familial history, young age of onset, associated neurological signs (spasticity, dystonia, ophtalmoplegia, ataxia, cognitive decline…), neuroradiological abnormalities (metallic deposits, calcifications, cerebellar atrophy…), dopa-resistance or early dopa-intolerance, can lead to the diagnosis. The main objectives are to detect treatable diseases (Wilson disease, cerebrotendinous xanthomatosis, Niemann-Pick disease, Gaucher disease, hypermanganesemia…), so genetic and prognostic advice can be proposed.