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01-07-2014 | ICIEM Symposium 2013

Parkinsonism and inborn errors of metabolism

Authors: A. Garcia-Cazorla, S. T. Duarte

Published in: Journal of Inherited Metabolic Disease | Issue 4/2014

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.

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Title: Parkinsonism and inborn errors of metabolism
Authors: A. Garcia-Cazorla
S. T. Duarte
Publication date: 01-07-2014
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 4/2014
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-014-9723-6

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