Rare causes of dystonia parkinsonism.
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.
Schneider
Susanne A
SA
Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK. susanne.schneider@neuro.uni-luebeck.de
Bhatia
Kailash P
KP
D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000150:complications / Q000209:etiology* / Q000235:genetics; D006801:Humans; D020734:Parkinsonian Disorders / Q000150:complications / Q000209:etiology* / Q000235:genetics; D010641:Phenotype