Current Neurology and Neuroscience Reports

, Volume 10, Issue 6, pp 431–439

Rare Causes of Dystonia Parkinsonism


DOI: 10.1007/s11910-010-0136-0

Cite this article as:
Schneider, S.A. & Bhatia, K.P. Curr Neurol Neurosci Rep (2010) 10: 431. doi:10.1007/s11910-010-0136-0


The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson’s disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. They have in common that in all these syndromes there may be a combination of dystonic and parkinsonian features, which may be complicated by pyramidal tract involvement. The aim of this review is to familiarize the clinician with the phenotypes of these disorders.


Dopa-responsive dystoniaWilson’s diseaseParkin-associated parkinsonismPINK1-associated parkinsonismDJ-1-associated parkinsonismPARK2PARK6PARK7x-linked dystonia-parkinsonismLubag diseaseDYT3Rapid-onset dystonia-parkinsonismDYT12DYT16Neurodegeneration with Brain Iron Accumulation (NBIA)Pantothenate kinase-associated neurodegenerationPLA2G6-associated neurodegenerationPARK14NeuroferritinopathyKufor-Rakeb diseasePARK9FBXO7-associated neurodegenerationPARK15Spastic paraplegia with a thin corpus callosum (SPG11)SLC6A3 geneSENDA syndrome

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© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Sobell Department for Motor Neuroscience and Movement Disorders, Institute of NeurologyUniversity College LondonLondonUK
  2. 2.Section of Clinical and Molecular Neurogenetics at the Department of NeurologyUniversity LuebeckLuebeckGermany