Parkinsonism & related disorders
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Mutations of the FUS gene were first reported to cause amyotrophic lateral sclerosis (ALS). Subsequent studies confirmed the role of mutations in ALS and also implicated them in frontotemporal dementia (FTD). Recently, through Next-Generation Exome sequencing approaches a mutation resulting in a substitution (p. ⋯ We sequenced specific regions of the gene encoding three functional domains of the FUS protein in 702 patients with PD. Our sequencing study did not identify any novel non-synonymous variant that would appear to affect the subjects' susceptibility to Parkinson's disease. These findings and previous studies have shown that variants within the FUS gene are not a common cause of PD or ET, in comparison to their role in ALS.
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Parkinsonism Relat. Disord. · Jan 2014
Prodromal Parkinson's disease--using REM sleep behavior disorder as a window.
REM sleep behavior disorder (RBD) is characterized by loss of REM atonia of sleep, such that patients act out the contents of their dreams. Perhaps the most important facet of idiopathic RBD is that it is a powerful prodromal marker of Parkinson's disease (PD) and other synucleinopathies. Several prospective studies have now established that patients with idiopathic RBD have up to an 80% risk of developing a defined neurodegenerative synucleinopathy. ⋯ Third, assessing epidemiology of RBD allows us to study the epidemiology of PD and dementia with Lewy bodies 10-15 years earlier, reducing bias and opening new hypotheses as to the mechanism of action of selected risk factors. Finally, by prospectively observing RBD patients as they transition to full neurodegenerative synucleinopathy, one has an unprecedented window in which to directly observe evolution of PD from its prodromal stages. The evidence for RBD as a marker of prodromal PD and all these implications will be discussed.
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Parkinsonism Relat. Disord. · Jan 2014
Genetic analysis of the fused in sarcoma gene in Chinese Han patients with Parkinson's disease.
Exome sequencing in a large essential tremor (ET) family identified a novel nonsense mutation (p.Q290X) in the fused in sarcoma gene (FUS) as the cause of this family. Because of the clinical overlap between ET and Parkinson's disease (PD), the role of FUS in an independent cohort of PD patients from China mainland was evaluated. ⋯ The FUS gene is not a genetic risk factor for PD in the population of Chinese Han ethnicity.
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Parkinsonism Relat. Disord. · Jan 2014
Unexplained lower limb pain in Parkinson's disease: a phenotypic variant of "painful Parkinson's disease".
Unexplained pain is a key non-motor symptom (NMS) of Parkinson's disease (PD) that is prevalent throughout the condition and often unrecognized and under treated. We have identified a cluster of patients with unexplained refractory and intrusive lower limb pain. ⋯ We believe that unexplained lower limb pain is a specific non-motor phenotype in Parkinson's disease that is problematic and often undisclosed. This may be a variant of central pain and merits recognition.