title: Parkinsonism and inborn errors of metabolism.
abstract: Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept "hypokinetic-rigid syndrome" (HRS) is more accurate in children. In general, the terms "dystonia-parkinsonism", "parkinsonism-plus", or "parkinsonism-like" are preferred to designate these forms of paediatric HRS. Inborn errors of metabolism (IEM) constitute an important group amongst the genetic causes of Parkinsonism at any age. The main IEM causing Parkinsonism are metal-storage diseases, neurotransmitter defects, lysosomal storage disorders and energy metabolism defects. IEM should not be neglected as many of them represent treatable causes of Parkinsonism. Here we review IEMs causing this neurological syndrome and propose diagnostic approaches depending on the age of onset and the associated clinical and neuroimaging features.
authors.affiliation: Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain, agarcia@hsjdbcn.org.
authors.forename: A
authors.initials: A
authors.lastname: Garcia-Cazorla
authors.forename: S T
authors.initials: ST
authors.lastname: Duarte
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D059906:Neuroimaging / Q000379:methods; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D012189:Retrospective Studies