Document Detail


A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
MedLine Citation:
PMID:  21555728     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).
METHODS: We 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.
RESULTS: Eleven 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.
CONCLUSION: Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.
Authors:
A Puschmann; R F Pfeiffer; A J Stoessl; R Kuriakose; J L Lash; J A Searcy; A J Strongosky; C Vilariño-Güell; M J Farrer; O A Ross; D W Dickson; Z K Wszolek
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  76     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-05-10     Completed Date:  2011-07-11     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1623-30     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Wszolek.Zbigniew@mayo.edu
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Brain / metabolism,  pathology,  radionuclide imaging
DNA-Binding Proteins / metabolism
Depression / complications*,  genetics,  radionuclide imaging
Essential Tremor / complications*,  genetics,  radionuclide imaging
Eukaryotic Initiation Factor-4G / genetics
Family Health*
Female
Humans
Longitudinal Studies
Male
Mental Status Schedule
Microtubule-Associated Proteins / genetics
Middle Aged
Parkinsonian Disorders / complications*,  genetics,  radionuclide imaging
Positron-Emission Tomography / methods
Protein-Serine-Threonine Kinases / genetics
Restless Legs Syndrome / complications*,  genetics,  radionuclide imaging
alpha-Synuclein / genetics
Grant Support
ID/Acronym/Agency:
P50NS072187/NS/NINDS NIH HHS; //Canadian Institutes of Health Research
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Eukaryotic Initiation Factor-4G; 0/Microtubule-Associated Proteins; 0/SNCA protein, human; 0/alpha-Synuclein; 0/protein TDP-43; 144198-36-7/dynactin; EC 2.7.11.1/LRRK2 protein, human; EC 2.7.11.1/Protein-Serine-Threonine Kinases
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