A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Identifieur interne : 001968 ( Main/Exploration ); précédent : 001967; suivant : 001969A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Auteurs : A. Puschmann [États-Unis, Suède] ; R. F. Pfeiffer [États-Unis] ; A. J. Stoessl [Canada] ; R. Kuriakose [Canada] ; J. L. Lash [États-Unis] ; J. A. Searcy [États-Unis] ; A. J. Strongosky [États-Unis] ; C. Vilarino-Güell [États-Unis, Canada] ; M. J. Farrer [États-Unis, Canada] ; O. A. Ross [États-Unis] ; D. W. Dickson [États-Unis] ; Z. K. Wszolek [États-Unis]Source :
- Neurology [ 0028-3878 ] ; 2011.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Brain (diagnostic imaging), Brain (metabolism), Brain (pathology), DNA-Binding Proteins (metabolism), Depression, Depression (complications), Depression (diagnostic imaging), Depression (genetics), Dynactin Complex, Essential Tremor (complications), Essential Tremor (diagnostic imaging), Essential Tremor (genetics), Eukaryotic Initiation Factor-4G (genetics), Family Health, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Longitudinal Studies, Male, Mental Status Schedule, Microtubule-Associated Proteins (genetics), Middle Aged, Nervous system diseases, Parkinsonian Disorders (complications), Parkinsonian Disorders (diagnostic imaging), Parkinsonian Disorders (genetics), Parkinsonism, Positron-Emission Tomography (methods), Protein-Serine-Threonine Kinases (genetics), Restless Legs Syndrome (complications), Restless Legs Syndrome (diagnostic imaging), Restless Legs Syndrome (genetics), Restless legs syndrome, Tremor, alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G, Microtubule-Associated Proteins, Protein-Serine-Threonine Kinases, alpha-Synuclein.
- chemical , metabolism : DNA-Binding Proteins.
- complications : Depression, Essential Tremor, Parkinsonian Disorders, Restless Legs Syndrome.
- diagnostic imaging : Brain, Depression, Essential Tremor, Parkinsonian Disorders, Restless Legs Syndrome.
- genetics : Depression, Essential Tremor, Parkinsonian Disorders, Restless Legs Syndrome.
- metabolism : Brain.
- methods : Positron-Emission Tomography.
- pathology : Brain.
- Adult, Aged, Dynactin Complex, Family Health, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Longitudinal Studies, Male, Mental Status Schedule, Middle Aged.
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.
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Le document en format XML
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Puschmann</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Geriatric Psychiatry Lund University</s1><s3>SWE</s3><sZ>1 aut.</sZ></inist:fA14><country>Suède</country><wicri:noRegion>Department of Geriatric Psychiatry Lund University</wicri:noRegion></affiliation></author><author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology University of Tennessee Health Science Center</s1><s2>Memphis</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Neurology University of Tennessee Health Science Center</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>University of British Columbia & Vancouver Coastal Health</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>University of British Columbia & Vancouver Coastal Health</wicri:noRegion></affiliation></author><author><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>University of British Columbia & Vancouver Coastal Health</s1><s2>Vancouver</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>University of British Columbia & Vancouver Coastal Health</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Saint John Regional Hospital</s1><s2>Saint John</s2><s3>CAN</s3><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saint John Regional Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Lash, J L" sort="Lash, J L" uniqKey="Lash J" first="J. L." last="Lash">J. L. Lash</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Searcy, J A" sort="Searcy, J A" uniqKey="Searcy J" first="J. A." last="Searcy">J. A. Searcy</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Vilarino Guell, C" sort="Vilarino Guell, C" uniqKey="Vilarino Guell C" first="C." last="Vilarino-Güell">C. Vilarino-Güell</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Centre for Molecular Medicine and Therapeutics University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Centre for Molecular Medicine and Therapeutics University of British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Centre for Molecular Medicine and Therapeutics University of British Columbia</s1><s2>Vancouver, BC</s2><s3>CAN</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Centre for Molecular Medicine and Therapeutics University of British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neuroscience (Neuropathology), Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>11 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Brain (diagnostic imaging)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA-Binding Proteins (metabolism)</term><term>Depression</term><term>Depression (complications)</term><term>Depression (diagnostic imaging)</term><term>Depression (genetics)</term><term>Dynactin Complex</term><term>Essential Tremor (complications)</term><term>Essential Tremor (diagnostic imaging)</term><term>Essential Tremor (genetics)</term><term>Eukaryotic Initiation Factor-4G (genetics)</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Microtubule-Associated Proteins (genetics)</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (diagnostic imaging)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Positron-Emission Tomography (methods)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Restless Legs Syndrome (complications)</term><term>Restless Legs Syndrome (diagnostic imaging)</term><term>Restless Legs Syndrome (genetics)</term><term>Restless legs syndrome</term><term>Tremor</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Eukaryotic Initiation Factor-4G</term><term>Microtubule-Associated Proteins</term><term>Protein-Serine-Threonine Kinases</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Depression</term><term>Essential Tremor</term><term>Parkinsonian Disorders</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Brain</term><term>Depression</term><term>Essential Tremor</term><term>Parkinsonian Disorders</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Depression</term><term>Essential Tremor</term><term>Parkinsonian Disorders</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Dynactin Complex</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Tremblement</term><term>Syndrome des jambes sans repos</term><term>Etat dépressif</term><term>Pathologie du système nerveux</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 <sub>L</sub>-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.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Suède</li><li>États-Unis</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Puschmann, A" sort="Puschmann, A" uniqKey="Puschmann A" first="A." last="Puschmann">A. Puschmann</name></noRegion><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><name sortKey="Lash, J L" sort="Lash, J L" uniqKey="Lash J" first="J. L." last="Lash">J. L. Lash</name><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name><name sortKey="Searcy, J A" sort="Searcy, J A" uniqKey="Searcy J" first="J. A." last="Searcy">J. A. Searcy</name><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name><name sortKey="Vilarino Guell, C" sort="Vilarino Guell, C" uniqKey="Vilarino Guell C" first="C." last="Vilarino-Güell">C. Vilarino-Güell</name><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></country><country name="Suède"><noRegion><name sortKey="Puschmann, A" sort="Puschmann, A" uniqKey="Puschmann A" first="A." last="Puschmann">A. Puschmann</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name></noRegion><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name><name sortKey="Vilarino Guell, C" sort="Vilarino Guell, C" uniqKey="Vilarino Guell C" first="C." last="Vilarino-Güell">C. Vilarino-Güell</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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