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A family with parkinsonism, essential tremor, restless legs syndrome, and depression

Puschmann, Andreas LU ; Pfeiffer, R. F.; Stoessl, A. J.; Kuriakose, R.; Lash, J. L.; Searcy, J. A.; Strongosky, A. J.; Vilarino-Gueell, C.; Farrer, M. J. and Ross, O. A., et al. (2011) In Neurology 76(19). p.1623-1630
Abstract
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... (More)
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. Neurology (R) 2011; 76: 1623-1630 (Less)
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Neurology
volume
76
issue
19
pages
1623 - 1630
publisher
American Academy of Neurology
external identifiers
  • wos:000290437800007
  • scopus:79955853163
ISSN
1526-632X
language
English
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yes
id
a01c69ec-5dfa-453f-8d9f-5b48a3174dab (old id 1986724)
date added to LUP
2011-07-01 09:18:42
date last changed
2017-09-24 03:52:16
@article{a01c69ec-5dfa-453f-8d9f-5b48a3174dab,
  abstract     = {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. Neurology (R) 2011; 76: 1623-1630},
  author       = {Puschmann, Andreas and Pfeiffer, R. F. and Stoessl, A. J. and Kuriakose, R. and Lash, J. L. and Searcy, J. A. and Strongosky, A. J. and Vilarino-Gueell, C. and Farrer, M. J. and Ross, O. A. and Dickson, D. W. and Wszolek, Z. K.},
  issn         = {1526-632X},
  language     = {eng},
  number       = {19},
  pages        = {1623--1630},
  publisher    = {American Academy of Neurology},
  series       = {Neurology},
  title        = {A family with parkinsonism, essential tremor, restless legs syndrome, and depression},
  volume       = {76},
  year         = {2011},
}