ArticleNeurology2011
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
Article in Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Prospective study of restless legs syndrome and risk of depression in women.American journal of epidemiology · 2012Pooled it
- Suspected duloxetine-induced restless legs syndrome phenotypic variant: a case report.BMC psychiatry · 2024Article
- Pallidal degenerations and related disorders: an update.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Depression in multiple system atrophy: Views on pathological, clinical and imaging aspects.Frontiers in psychiatry · 2022Review
- Sleep Disorders in Patients with Essential Tremor.Current neurology and neuroscience reports · 2021Review
- Greater Postural Sway and Tremor during Balance Tasks in Patients with Plantar Fasciitis Compared to Age-Matched Controls.Healthcare (Basel, Switzerland) · 2020Article
- Essential Tremor and Parkinson's Disease: Exploring the Relationship.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
- New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.Current neurology and neuroscience reports · 2017Review
- Genetic markers of Restless Legs Syndrome in Parkinson disease.Parkinsonism & related disorders · 2015Article
- Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson's disease (ET-PD).BMC neurology · 2014Observational
- TARDBP mutations in Parkinson's disease.Parkinsonism & related disorders · 2013Article
- Key issues in essential tremor genetics research: Where are we now and how can we move forward?Tremor and other hyperkinetic movements (New York, N.Y.) · 2013Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundPrevious epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).
methodsWe describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem.
resultsEleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with l-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies.
conclusionFamilial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.