Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike

• Published in: Journal of Korean medical science 2018, 33(28), , pp.1-18
• Main Authors: Lee, Woong-Woo, Jeon, Beomseok, Kim, Ryul
• Format: Article
• Language: English
• Subjects: Carrier Proteins; Dopamine; Dopamine Plasma Membrane Transport Proteins; Dystonic Disorders; Group VI Phospholipases A2; Humans; Levodopa; Mitochondrial Proteins; Molecular Chaperones; Parkinsonian Disorders; Proteins; Review; 의학일반
• ISSN: 1011-8934; 1598-6357; 1598-6357
• DOI: 10.3346/jkms.2018.33.e184

Previously, we defined DRD as a syndrome of selective nigrostriatal dopamine deficiency caused by genetic defects in the dopamine synthetic pathway without nigral cell loss. DRD-plus also has the same etiologic background with DRD, but DRD-plus patients have more severe features that are not seen in DRD because of the severity of the genetic defect. However, there have been many reports of dystonia responsive to dopaminergic drugs that do not fit into DRD or DRD-plus (genetic defects in the dopamine synthetic pathway without nigral cell loss). We reframed the concept of DRD/DRD-plus and proposed the concept of DRD look-alike to include the additional cases described above. Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); mutation resulting in a developmentally decreased number of nigral cells; degenerative disorders with progressive loss of nigral cells (juvenile Parkinson's disease; pallidopyramidal syndrome; spinocerebellar ataxia type 3), and disorders that are not known to affect the nigrostriatal dopaminergic system (DYT1; GLUT1 deficiency; myoclonus-dystonia; ataxia telangiectasia). This classification will help with an etiologic diagnosis as well as planning the work up and guiding the therapy.