| Literature DB >> 30928149 |
Carlos R Ferreira1, Georg F Hoffmann2, Nenad Blau3.
Abstract
About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. Published by Elsevier Inc.Entities:
Keywords: Ataxia; Choreoathetosis; Dystonia; Hypokinetic-rigid syndrome; Inborn errors of metabolism; Inherited metabolic diseases; Movement disorders; Myoclonus; Parkinsonism; Tremor
Mesh:
Year: 2019 PMID: 30928149 DOI: 10.1016/j.ymgme.2019.03.007
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797