- Movement disorders comprise a range of physically and emotionally debilitating conditions which profoundly impact daily activities. Most are associated with significant reductions in quality of life (QOL), which itself is a multidimensional construct influenced not only by physical impairment but also by psychological factors, patient resilience, social support and coping strategies. Maintaining maximal QOL in the face of disease-related challenges is a major focus of movement disorder practice.
- To characterise the distinctive eye movement disorder and the sleep-related dyskinesia in Adenylate cyclase 5 (ADCY5) related disease.
- We read with great interest the publication by Rajput and colleagues, reporting the autopsy findings of five couples with conjugal parkinsonism (including three with atypical parkinsonism like multisystem atrophy (MSA) or progressive supranuclear palsy (PSP), but only two with Parkinson's disease) and concluding that neither a prion-like transmission nor shared environmental factor seem to play a role in the pathogenesis of Parkinson's disease . They further suggest that the risk of parkinsonism in unrelated couples is similar to that in the general population.
- Parkinsonism occurring in the context of fronto-temporal dementia (FTD) is most commonly related to mutations of microtubule-associated protein tau (MAPT) gene on chromosome 17, though other genes have been implicated . To date, over 50 pathogenic MAPT mutations have been described, accounting for the large majority of FTD cases associated with parkinsonism (FTDP-17) . The mean age of onset of FDTP-17 related to MAPT mutations is 49 years and the phenotype includes behavioural changes, dementia and parkinsonism, variably appearing during the disease .
- The diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary paroxysmal dyskinesias (PxD) remains difficult.
- Multiple system atrophy (MSA) presents with fairly symmetrical, levodopa unresponsive parkinsonism and additional features like autonomic dysfunction, cerebellar and corticospinal tract involvement. Marked asymmetry in atypical parkinsonism suggests alternative diagnosis like Corticobasal syndrome (CBS).