ParkinsonCanadaV1, Ncbi, Curation, bibRecord, 000E79

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

Identifieur interne : 000E79 ( Ncbi/Curation ); précédent : 000E78; suivant : 000E80

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

Auteurs : A. Puschmann ; R. F. Pfeiffer ; A. J. Stoessl ; R. Kuriakose ; J. L. Lash ; J. A. Searcy ; A. J. Strongosky ; C. Vilari O-Güell ; M. J. Farrer ; O. A. Ross ; D. W. Dickson ; Z. K. Wszolek

Source :

Neurology [ 0028-3878 ] ; 2011.

RBID : PMC:3100088

English descriptors

KwdEn :
- Adult, Aged, Brain (diagnostic imaging), Brain (metabolism), Brain (pathology), DNA-Binding Proteins (metabolism), 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, Parkinsonian Disorders (complications), Parkinsonian Disorders (diagnostic imaging), Parkinsonian Disorders (genetics), Positron-Emission Tomography (methods), Protein-Serine-Threonine Kinases (genetics), Restless Legs Syndrome (complications), Restless Legs Syndrome (diagnostic imaging), Restless Legs Syndrome (genetics), 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100088

DOI: 10.1212/WNL.0b013e318219fb42
PubMed: 21555728
PubMed Central: 3100088

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<term>Aged</term>
<term>Brain (diagnostic imaging)</term>
<term>Brain (metabolism)</term>
<term>Brain (pathology)</term>
<term>DNA-Binding Proteins (metabolism)</term>
<term>Depression (complications)</term>
<term>Depression (diagnostic imaging)</term>
<term>Depression (genetics)</term>
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<term>Essential Tremor (complications)</term>
<term>Essential Tremor (diagnostic imaging)</term>
<term>Essential Tremor (genetics)</term>
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<term>Humans</term>
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<term>Middle Aged</term>
<term>Parkinsonian Disorders (complications)</term>
<term>Parkinsonian Disorders (diagnostic imaging)</term>
<term>Parkinsonian Disorders (genetics)</term>
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<term>Restless Legs Syndrome (genetics)</term>
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<term>Microtubule-Associated Proteins</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>alpha-Synuclein</term>
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<term>Parkinsonian Disorders</term>
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<front><div type="abstract" xml:lang="en"><sec><title>Background:</title>
<p>Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).</p>
</sec>
<sec><title>Methods:</title>
<p>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.</p>
</sec>
<sec><title>Results:</title>
<p>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 <sc>l</sc>
-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.</p>
</sec>
<sec><title>Conclusion:</title>
<p>Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.</p>
</sec>
</div>
</front>
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A family with parkinsonism, essential tremor, restless legs syndrome, and depression

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

Source :

English descriptors

Abstract

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