Rapid-onset dystonia-parkinsonism (RDP, DYT12, MIM 128235) is a rare autosomal dominant movement disorder characterized by abrupt onset of slow, dystonic movements and prominent bulbar features. Three families and 1 isolated case have been described in the literature, and linkage to markers on chromosome 19q13 have been reported. Here, we describe the clinical features in a fourth family (the second in Europe) with 4 affected members, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes. By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13.

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SummaryCreutzfeldt-Jakob disease (CJD) is a neurodegenerative disorder belonging to the group of transmissible spongiform encephalopathies. The transition of physiological, soluble, neuroprotective prion protein PrPc into its insoluble, misfolded isoform PrPSc remains its central pathogenic event. The progressive accumulation of isoform PrPSc within the brain tissue results in spongiform degeneration and a plethora of clinical symptoms. Typically, CJD manifests as progressive dementia with myoclonus, visual or cerebellar dysfunction, pyramidal/ extrapyramidal signs or akinetic mutism. However, a growing number of studies indicate that CJD may present with prodromal psychiatric manifestations including anhedonia, anxiety, irritability, depression, insomnia, psychosis and catatonic behavior. We present a case of CJD with a history of prodromal psychiatric symptoms and catatonic behavior diagnosed by brain biopsy.Creutzfeld-Jakob disease/brain biopsy/psychiatric symptoms