ParkinsonFranceV1, Main, Exploration, bibRecord, 000D92

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Identifieur interne : 000D92 ( Main/Exploration ); précédent : 000D91; suivant : 000D93

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Auteurs : Isabelle Le Ber ; Agnès Camuzat ; Rita Guerreiro ; Kawtar Bouya-Ahmed ; Jose Bras ; Gael Nicolas ; Audrey Gabelle ; Mira Didic ; Anne De Septenville ; Stéphanie Millecamps ; Timothée Lenglet ; Morwena Latouche ; Edor Kabashi ; Dominique Campion ; Didier Hannequin ; John Hardy ; Alexis Brice

Source :

JAMA neurology [ 2168-6149 ] ; 2013.

RBID : PMC:4199096

Abstract

IMPORTANCE

Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD.

OBJECTIVE

To evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients.

DESIGN

A SQSTM1 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes.

SETTING

Primary care or referral center.

PARTICIPANTS

An overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS.

MAIN OUTCOMES AND MEASURES

Frequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.

RESULTS

We identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations.

CONCLUSIONS AND RELEVANCE

Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199096

DOI: 10.1001/jamaneurol.2013.3849
PubMed: 24042580
PubMed Central: 4199096

Affiliations:

Le document en format XML

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 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis</title>
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<author><name sortKey="Millecamps, Stephanie" sort="Millecamps, Stephanie" uniqKey="Millecamps S" first="Stéphanie" last="Millecamps">Stéphanie Millecamps</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>SQSTM1</italic>
 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis</title>
<author><name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name>
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<author><name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name>
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<author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name>
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<author><name sortKey="Bouya Ahmed, Kawtar" sort="Bouya Ahmed, Kawtar" uniqKey="Bouya Ahmed K" first="Kawtar" last="Bouya-Ahmed">Kawtar Bouya-Ahmed</name>
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<author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
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<author><name sortKey="Nicolas, Gael" sort="Nicolas, Gael" uniqKey="Nicolas G" first="Gael" last="Nicolas">Gael Nicolas</name>
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<author><name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name>
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<author><name sortKey="Didic, Mira" sort="Didic, Mira" uniqKey="Didic M" first="Mira" last="Didic">Mira Didic</name>
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<author><name sortKey="Millecamps, Stephanie" sort="Millecamps, Stephanie" uniqKey="Millecamps S" first="Stéphanie" last="Millecamps">Stéphanie Millecamps</name>
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<author><name sortKey="Latouche, Morwena" sort="Latouche, Morwena" uniqKey="Latouche M" first="Morwena" last="Latouche">Morwena Latouche</name>
</author>
<author><name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
</author>
<author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name>
</author>
<author><name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<series><title level="j">JAMA neurology</title>
<idno type="ISSN">2168-6149</idno>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>IMPORTANCE</title>
<p id="P9">Mutations in the <italic>SQSTM1</italic>
 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, <italic>SQSTM1</italic>
 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for <italic>SQSTM1</italic>
 in FTD.</p>
</sec>
<sec id="S2"><title>OBJECTIVE</title>
<p id="P10">To evaluate the exact contribution of <italic>SQSTM1</italic>
 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients.</p>
</sec>
<sec id="S3"><title>DESIGN</title>
<p id="P11">A <italic>SQSTM1</italic>
 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of <italic>SQSTM1</italic>
 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes.</p>
</sec>
<sec id="S4"><title>SETTING</title>
<p id="P12">Primary care or referral center.</p>
</sec>
<sec id="S5"><title>PARTICIPANTS</title>
<p id="P13">An overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS.</p>
</sec>
<sec id="S6"><title>MAIN OUTCOMES AND MEASURES</title>
<p id="P14">Frequency of <italic>SQSTM1</italic>
 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.</p>
</sec>
<sec id="S7"><title>RESULTS</title>
<p id="P15">We identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations.</p>
</sec>
<sec id="S8"><title>CONCLUSIONS AND RELEVANCE</title>
<p id="P16">Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list></list>
<tree><noCountry><name sortKey="Bouya Ahmed, Kawtar" sort="Bouya Ahmed, Kawtar" uniqKey="Bouya Ahmed K" first="Kawtar" last="Bouya-Ahmed">Kawtar Bouya-Ahmed</name>
<name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name>
<name sortKey="Camuzat, Agnes" sort="Camuzat, Agnes" uniqKey="Camuzat A" first="Agnès" last="Camuzat">Agnès Camuzat</name>
<name sortKey="De Septenville, Anne" sort="De Septenville, Anne" uniqKey="De Septenville A" first="Anne" last="De Septenville">Anne De Septenville</name>
<name sortKey="Didic, Mira" sort="Didic, Mira" uniqKey="Didic M" first="Mira" last="Didic">Mira Didic</name>
<name sortKey="Gabelle, Audrey" sort="Gabelle, Audrey" uniqKey="Gabelle A" first="Audrey" last="Gabelle">Audrey Gabelle</name>
<name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name>
<name sortKey="Hannequin, Didier" sort="Hannequin, Didier" uniqKey="Hannequin D" first="Didier" last="Hannequin">Didier Hannequin</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Kabashi, Edor" sort="Kabashi, Edor" uniqKey="Kabashi E" first="Edor" last="Kabashi">Edor Kabashi</name>
<name sortKey="Latouche, Morwena" sort="Latouche, Morwena" uniqKey="Latouche M" first="Morwena" last="Latouche">Morwena Latouche</name>
<name sortKey="Le Ber, Isabelle" sort="Le Ber, Isabelle" uniqKey="Le Ber I" first="Isabelle" last="Le Ber">Isabelle Le Ber</name>
<name sortKey="Lenglet, Timothee" sort="Lenglet, Timothee" uniqKey="Lenglet T" first="Timothée" last="Lenglet">Timothée Lenglet</name>
<name sortKey="Millecamps, Stephanie" sort="Millecamps, Stephanie" uniqKey="Millecamps S" first="Stéphanie" last="Millecamps">Stéphanie Millecamps</name>
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</noCountry>
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</record>

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La maladie de Parkinson en France (serveur d'exploration)

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

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Abstract

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