JankovicV1, Ncbi, Merge, bibRecord, 000208

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

Identifieur interne : 000208 ( Ncbi/Merge ); précédent : 000207; suivant : 000209

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

Auteurs : W Nichols ; N. Pankratz ; D Marek ; M Pauciulo ; V Elsaesser ; C Halter ; A. Rudolph ; J. Wojcieszek ; R Pfeiffer ; T. Foroud

Source :

Neurology [ 0028-3878 ] ; 2009.

RBID : PMC:2677501

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Predisposition to Disease (epidemiology), Genetic Predisposition to Disease (genetics), Genetic Variation (genetics), Glucosylceramidase (genetics), Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (enzymology), Parkinson Disease (epidemiology), Parkinson Disease (genetics).
MESH :
- chemical , genetics : Glucosylceramidase.
- enzymology : Parkinson Disease.
- epidemiology : Genetic Predisposition to Disease, Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Genetic Variation, Mutation, Parkinson Disease.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged.

Abstract

Objective:

To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease.

Methods:

We performed a comprehensive study of all GBA exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the GBA locus. Identified GBA variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls.

Results:

Nine different GBA variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sample identified 161 variant carriers (12.2%) in 99 different PD families. An unbiased estimate of the frequency of the five previously reported GBA variants in the familial PD sample was 12.6% and in the control sample was 5.3% (odds ratio 2.6; 95% confidence interval 1.5–4.4). Presence of a GBA variant was associated with an earlier age at onset (p = 0.0001). On average, those patients carrying a GBA variant had onset with PD 6.04 years earlier than those without a GBA variant.

Conclusions:

This study suggests that GBA is a susceptibility gene for familial Parkinson disease (PD) and patients with GBA variants have an earlier age at onset than patients with PD without GBA variants.

GLOSSARY

= confidence interval;

= Gaucher disease;

GDS

= Geriatric Depression Scale;

MMSE

= Mini-Mental State Examination;

NCRAD

= National Cell Repository for Alzheimer’s Disease;

NPL

= nonparametric lod;

= odds ratio;

= Parkinson disease;

UPDRS

= Unified Parkinson’s Disease Rating Scale.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677501

DOI: 10.1212/01.wnl.0000327823.81237.d1
PubMed: 18987351
PubMed Central: 2677501

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PMC:2677501

Le document en format XML

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 are associated with familial Parkinson disease susceptibility and age at onset</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
</author>
<author><name sortKey="Pankratz, N" sort="Pankratz, N" uniqKey="Pankratz N" first="N" last="Pankratz">N. Pankratz</name>
</author>
<author><name sortKey="Marek, D K" sort="Marek, D K" uniqKey="Marek D" first="D" last="Marek">D Marek</name>
</author>
<author><name sortKey="Pauciulo, M W" sort="Pauciulo, M W" uniqKey="Pauciulo M" first="M" last="Pauciulo">M Pauciulo</name>
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<author><name sortKey="Elsaesser, V E" sort="Elsaesser, V E" uniqKey="Elsaesser V" first="V" last="Elsaesser">V Elsaesser</name>
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<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
</author>
<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
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<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
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<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
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<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GBA</italic>
 are associated with familial Parkinson disease susceptibility and age at onset</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
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<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
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<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
</author>
<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
</author>
<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
</author>
<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
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<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (epidemiology)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Variation (genetics)</term>
<term>Glucosylceramidase (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To characterize sequence variation within the glucocerebrosidase (<italic>GBA</italic>
) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease.</p>
</sec>
<sec><title>Methods:</title>
<p>We performed a comprehensive study of all <italic>GBA</italic>
 exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the <italic>GBA</italic>
 locus. Identified <italic>GBA</italic>
 variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls.</p>
</sec>
<sec><title>Results:</title>
<p>Nine different <italic>GBA</italic>
 variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sample identified 161 variant carriers (12.2%) in 99 different PD families. An unbiased estimate of the frequency of the five previously reported <italic>GBA</italic>
 variants in the familial PD sample was 12.6% and in the control sample was 5.3% (odds ratio 2.6; 95% confidence interval 1.5–4.4). Presence of a <italic>GBA</italic>
 variant was associated with an earlier age at onset (<italic>p</italic>
 = 0.0001). On average, those patients carrying a <italic>GBA</italic>
 variant had onset with PD 6.04 years earlier than those without a <italic>GBA</italic>
 variant.</p>
</sec>
<sec><title>Conclusions:</title>
<p>This study suggests that <italic>GBA</italic>
 is a susceptibility gene for familial Parkinson disease (PD) and patients with <italic>GBA</italic>
 variants have an earlier age at onset than patients with PD without <italic>GBA</italic>
 variants.</p>
</sec>
<sec><title>GLOSSARY</title>
<def-list list-type="abr"><def-item><term><bold>CI</bold>
</term>
<def><p> = confidence interval; </p>
</def>
</def-item>
<def-item><term><bold>GD</bold>
</term>
<def><p> = Gaucher disease; </p>
</def>
</def-item>
<def-item><term><bold>GDS</bold>
</term>
<def><p> = Geriatric Depression Scale; </p>
</def>
</def-item>
<def-item><term><bold>MMSE</bold>
</term>
<def><p> = Mini-Mental State Examination; </p>
</def>
</def-item>
<def-item><term><bold>NCRAD</bold>
</term>
<def><p> = National Cell Repository for Alzheimer’s Disease; </p>
</def>
</def-item>
<def-item><term><bold>NPL</bold>
</term>
<def><p> = nonparametric lod; </p>
</def>
</def-item>
<def-item><term><bold>OR</bold>
</term>
<def><p> = odds ratio; </p>
</def>
</def-item>
<def-item><term><bold>PD</bold>
</term>
<def><p> = Parkinson disease; </p>
</def>
</def-item>
<def-item><term><bold>UPDRS</bold>
</term>
<def><p> = Unified Parkinson’s Disease Rating Scale.</p>
</def>
</def-item>
</def-list>
</sec>
</div>
</front>
</TEI>
<double pmid="18987351"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>GBA</italic>
 are associated with familial Parkinson disease susceptibility and age at onset</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
</author>
<author><name sortKey="Pankratz, N" sort="Pankratz, N" uniqKey="Pankratz N" first="N" last="Pankratz">N. Pankratz</name>
</author>
<author><name sortKey="Marek, D K" sort="Marek, D K" uniqKey="Marek D" first="D" last="Marek">D Marek</name>
</author>
<author><name sortKey="Pauciulo, M W" sort="Pauciulo, M W" uniqKey="Pauciulo M" first="M" last="Pauciulo">M Pauciulo</name>
</author>
<author><name sortKey="Elsaesser, V E" sort="Elsaesser, V E" uniqKey="Elsaesser V" first="V" last="Elsaesser">V Elsaesser</name>
</author>
<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
</author>
<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
</author>
<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
</author>
<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
</author>
<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
</author>
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<idno type="doi">10.1212/01.wnl.0000327823.81237.d1</idno>
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<idno type="wicri:Area/Pmc/Curation">000094</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>GBA</italic>
 are associated with familial Parkinson disease susceptibility and age at onset</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
</author>
<author><name sortKey="Pankratz, N" sort="Pankratz, N" uniqKey="Pankratz N" first="N" last="Pankratz">N. Pankratz</name>
</author>
<author><name sortKey="Marek, D K" sort="Marek, D K" uniqKey="Marek D" first="D" last="Marek">D Marek</name>
</author>
<author><name sortKey="Pauciulo, M W" sort="Pauciulo, M W" uniqKey="Pauciulo M" first="M" last="Pauciulo">M Pauciulo</name>
</author>
<author><name sortKey="Elsaesser, V E" sort="Elsaesser, V E" uniqKey="Elsaesser V" first="V" last="Elsaesser">V Elsaesser</name>
</author>
<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
</author>
<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
</author>
<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
</author>
<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
</author>
<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<idno type="e-ISSN">1526-632X</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
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</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To characterize sequence variation within the glucocerebrosidase (<italic>GBA</italic>
) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease.</p>
</sec>
<sec><title>Methods:</title>
<p>We performed a comprehensive study of all <italic>GBA</italic>
 exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the <italic>GBA</italic>
 locus. Identified <italic>GBA</italic>
 variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls.</p>
</sec>
<sec><title>Results:</title>
<p>Nine different <italic>GBA</italic>
 variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sample identified 161 variant carriers (12.2%) in 99 different PD families. An unbiased estimate of the frequency of the five previously reported <italic>GBA</italic>
 variants in the familial PD sample was 12.6% and in the control sample was 5.3% (odds ratio 2.6; 95% confidence interval 1.5–4.4). Presence of a <italic>GBA</italic>
 variant was associated with an earlier age at onset (<italic>p</italic>
 = 0.0001). On average, those patients carrying a <italic>GBA</italic>
 variant had onset with PD 6.04 years earlier than those without a <italic>GBA</italic>
 variant.</p>
</sec>
<sec><title>Conclusions:</title>
<p>This study suggests that <italic>GBA</italic>
 is a susceptibility gene for familial Parkinson disease (PD) and patients with <italic>GBA</italic>
 variants have an earlier age at onset than patients with PD without <italic>GBA</italic>
 variants.</p>
</sec>
<sec><title>GLOSSARY</title>
<def-list list-type="abr"><def-item><term><bold>CI</bold>
</term>
<def><p> = confidence interval; </p>
</def>
</def-item>
<def-item><term><bold>GD</bold>
</term>
<def><p> = Gaucher disease; </p>
</def>
</def-item>
<def-item><term><bold>GDS</bold>
</term>
<def><p> = Geriatric Depression Scale; </p>
</def>
</def-item>
<def-item><term><bold>MMSE</bold>
</term>
<def><p> = Mini-Mental State Examination; </p>
</def>
</def-item>
<def-item><term><bold>NCRAD</bold>
</term>
<def><p> = National Cell Repository for Alzheimer’s Disease; </p>
</def>
</def-item>
<def-item><term><bold>NPL</bold>
</term>
<def><p> = nonparametric lod; </p>
</def>
</def-item>
<def-item><term><bold>OR</bold>
</term>
<def><p> = odds ratio; </p>
</def>
</def-item>
<def-item><term><bold>PD</bold>
</term>
<def><p> = Parkinson disease; </p>
</def>
</def-item>
<def-item><term><bold>UPDRS</bold>
</term>
<def><p> = Unified Parkinson’s Disease Rating Scale.</p>
</def>
</def-item>
</def-list>
</sec>
</div>
</front>
</TEI>
</pmc>
<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
<affiliation wicri:level="2"><nlm:affiliation>Associate Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. bill.nichols@cchmc.org</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Associate Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pankratz, N" sort="Pankratz, N" uniqKey="Pankratz N" first="N" last="Pankratz">N. Pankratz</name>
</author>
<author><name sortKey="Marek, D K" sort="Marek, D K" uniqKey="Marek D" first="D" last="Marek">D Marek</name>
</author>
<author><name sortKey="Pauciulo, M W" sort="Pauciulo, M W" uniqKey="Pauciulo M" first="M" last="Pauciulo">M Pauciulo</name>
</author>
<author><name sortKey="Elsaesser, V E" sort="Elsaesser, V E" uniqKey="Elsaesser V" first="V" last="Elsaesser">V Elsaesser</name>
</author>
<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
</author>
<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
</author>
<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
</author>
<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
</author>
<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2009">2009</date>
<idno type="doi">10.1212/01.wnl.0000327823.81237.d1</idno>
<idno type="RBID">pubmed:18987351</idno>
<idno type="pmid">18987351</idno>
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<idno type="wicri:Area/PubMed/Checkpoint">000113</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.</title>
<author><name sortKey="Nichols, W C" sort="Nichols, W C" uniqKey="Nichols W" first="W" last="Nichols">W Nichols</name>
<affiliation wicri:level="2"><nlm:affiliation>Associate Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. bill.nichols@cchmc.org</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Associate Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pankratz, N" sort="Pankratz, N" uniqKey="Pankratz N" first="N" last="Pankratz">N. Pankratz</name>
</author>
<author><name sortKey="Marek, D K" sort="Marek, D K" uniqKey="Marek D" first="D" last="Marek">D Marek</name>
</author>
<author><name sortKey="Pauciulo, M W" sort="Pauciulo, M W" uniqKey="Pauciulo M" first="M" last="Pauciulo">M Pauciulo</name>
</author>
<author><name sortKey="Elsaesser, V E" sort="Elsaesser, V E" uniqKey="Elsaesser V" first="V" last="Elsaesser">V Elsaesser</name>
</author>
<author><name sortKey="Halter, C A" sort="Halter, C A" uniqKey="Halter C" first="C" last="Halter">C Halter</name>
</author>
<author><name sortKey="Rudolph, A" sort="Rudolph, A" uniqKey="Rudolph A" first="A" last="Rudolph">A. Rudolph</name>
</author>
<author><name sortKey="Wojcieszek, J" sort="Wojcieszek, J" uniqKey="Wojcieszek J" first="J" last="Wojcieszek">J. Wojcieszek</name>
</author>
<author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R" last="Pfeiffer">R Pfeiffer</name>
</author>
<author><name sortKey="Foroud, T" sort="Foroud, T" uniqKey="Foroud T" first="T" last="Foroud">T. Foroud</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="e-ISSN">1526-632X</idno>
<imprint><date when="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (epidemiology)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Variation (genetics)</term>
<term>Glucosylceramidase (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease.</div>
</front>
</TEI>
</pubmed>
</double>
</record>

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Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

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