A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
Identifieur interne : 000231 ( Pmc/Curation ); précédent : 000230; suivant : 000232A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
Auteurs : Mathilde Renaud [France] ; Christophe Marcel [France] ; Gabrielle Rudolf [France] ; Mickaël Schaeffer [France] ; Ouhaïd Lagha-Boukbiza [France] ; Jean-Baptiste Chanson [France] ; Jamel Chelly [France] ; Mathieu Anheim [France] ; Christine Tranchant [France]Source :
- BMC Neurology [ 1471-2377 ] ; 2016.
Abstract
Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of
Between June 2011 and November 2013, all consecutive patients suspected with ET were prospectively included in a prospective, monocentric study. Family history, age at onset (AAO), features of tremor, benefit of alcohol and drugs, electrophysiological recording findings were collected. Sanger sequencing was performed for
Sixty eight patients were investigated. Fourteen diagnosed with psychogenic (5) or dystonic tremor (9) were excluded. Regarding the 54 ET patients, mean AAO was 48 years (6–77), and mean disease duration 15 years (1–55). Bimodal distribution of AAO was consistent with phenotypic subgroups. In patients with AAO before 30 years, marked benefit of alcohol (
Our data support that distinct ET phenotypic subgroups may be encountered. We recommend to study separately extreme phenotypes of ET, particularly autosomal dominant families with early AAO (<30 years) and marked benefit of alcohol, to facilitate the identification of ET genes. Electromyographic recording remains a support to distinguish ET from differential diagnosis.
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DOI: 10.1186/s12883-016-0748-3
PubMed: 27881096
PubMed Central: 5120508
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wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff4">Département d’informations médicales, Hôpitaux universitaires de Strasbourg, Hôpital civil, 1 place de l’Hôpital, 67000 Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département d’informations médicales, Hôpitaux universitaires de Strasbourg, Hôpital civil, 1 place de l’Hôpital, 67000 Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Lagha Boukbiza, Ouhaid" sort="Lagha Boukbiza, Ouhaid" uniqKey="Lagha Boukbiza O" first="Ouhaïd" last="Lagha-Boukbiza">Ouhaïd Lagha-Boukbiza</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Chanson, Jean Baptiste" sort="Chanson, Jean Baptiste" uniqKey="Chanson J" first="Jean-Baptiste" last="Chanson">Jean-Baptiste Chanson</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Service de Diagnostic génétique, Nouvel hôpital civil, 67000 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Diagnostic génétique, Nouvel hôpital civil, 67000 Strasbourg Cedex</wicri:regionArea></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27881096</idno><idno type="pmc">5120508</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120508</idno><idno type="RBID">PMC:5120508</idno><idno type="doi">10.1186/s12883-016-0748-3</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">000233</idno><idno 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Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Marcel, Christophe" sort="Marcel, Christophe" uniqKey="Marcel C" first="Christophe" last="Marcel">Christophe Marcel</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Schaeffer, Mickael" sort="Schaeffer, Mickael" uniqKey="Schaeffer M" first="Mickaël" last="Schaeffer">Mickaël Schaeffer</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff4">Département d’informations médicales, Hôpitaux universitaires de Strasbourg, Hôpital civil, 1 place de l’Hôpital, 67000 Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département d’informations médicales, Hôpitaux universitaires de Strasbourg, Hôpital civil, 1 place de l’Hôpital, 67000 Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Lagha Boukbiza, Ouhaid" sort="Lagha Boukbiza, Ouhaid" uniqKey="Lagha Boukbiza O" first="Ouhaïd" last="Lagha-Boukbiza">Ouhaïd Lagha-Boukbiza</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Chanson, Jean Baptiste" sort="Chanson, Jean Baptiste" uniqKey="Chanson J" first="Jean-Baptiste" last="Chanson">Jean-Baptiste Chanson</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff5">Service de Diagnostic génétique, Nouvel hôpital civil, 67000 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Diagnostic génétique, Nouvel hôpital civil, 67000 Strasbourg Cedex</wicri:regionArea></affiliation></author><author><name sortKey="Anheim, Mathieu" sort="Anheim, Mathieu" uniqKey="Anheim M" first="Mathieu" last="Anheim">Mathieu Anheim</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation wicri:level="1"><nlm:aff id="Aff1">Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff2">Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="Aff3">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch</wicri:regionArea></affiliation></author></analytic><series><title level="j">BMC Neurology</title><idno type="eISSN">1471-2377</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of <italic>HTRA2</italic> p.G399S, and <italic>ANO3</italic> p. W490C, p. R484 W and p. S685G mutations.</p></sec><sec><title>Methods</title><p>Between June 2011 and November 2013, all consecutive patients suspected with ET were prospectively included in a prospective, monocentric study. Family history, age at onset (AAO), features of tremor, benefit of alcohol and drugs, electrophysiological recording findings were collected. Sanger sequencing was performed for <italic>HTRA2</italic> and <italic>ANO3</italic> mutations screening.</p></sec><sec><title>Results</title><p>Sixty eight patients were investigated. Fourteen diagnosed with psychogenic (5) or dystonic tremor (9) were excluded. Regarding the 54 ET patients, mean AAO was 48 years (6–77), and mean disease duration 15 years (1–55). Bimodal distribution of AAO was consistent with phenotypic subgroups. In patients with AAO before 30 years, marked benefit of alcohol (<italic>p</italic> < 0.01) and ET family history (<italic>p</italic> < 0.01) were more frequent and the disease progression less severe (<italic>p</italic> < 0.0001). Neither <italic>HTRA2</italic> nor <italic>ANO3</italic> mutation were identified in our patients.</p></sec><sec><title>Conclusions</title><p>Our data support that distinct ET phenotypic subgroups may be encountered. We recommend to study separately extreme phenotypes of ET, particularly autosomal dominant families with early AAO (<30 years) and marked benefit of alcohol, to facilitate the identification of ET genes. Electromyographic recording remains a support to distinguish ET from differential diagnosis. <italic>HTRA2</italic> and <italic>ANO3</italic> mutations are not common causes of ET.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Deuschl, G" uniqKey="Deuschl G">G Deuschl</name></author><author><name sortKey="Bain, P" uniqKey="Bain P">P Bain</name></author><author><name sortKey="Brin, M" uniqKey="Brin M">M Brin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hubble, Jp" uniqKey="Hubble J">JP Hubble</name></author><author><name sortKey="Busenbark, Kl" uniqKey="Busenbark K">KL Busenbark</name></author><author><name sortKey="Pahwa, R" uniqKey="Pahwa R">R Pahwa</name></author><author><name sortKey="Lyons, K" uniqKey="Lyons K">K Lyons</name></author><author><name sortKey="Koller, Wc" uniqKey="Koller W">WC Koller</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Phibbs, F" uniqKey="Phibbs F">F Phibbs</name></author><author><name sortKey="Fang, Jy" uniqKey="Fang J">JY Fang</name></author><author><name sortKey="Cooper, Mk" uniqKey="Cooper M">MK Cooper</name></author><author><name sortKey="Charles, Dp" uniqKey="Charles D">DP Charles</name></author><author><name sortKey="Davis, Tl" uniqKey="Davis T">TL Davis</name></author><author><name sortKey="Hedera, P" uniqKey="Hedera P">P Hedera</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chandran, V" uniqKey="Chandran V">V Chandran</name></author><author><name sortKey="Pal, Pk" uniqKey="Pal P">PK Pal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kuhlenb Umer, G" uniqKey="Kuhlenb Umer G">G Kuhlenbäumer</name></author><author><name sortKey="Hopfner, F" uniqKey="Hopfner F">F Hopfner</name></author><author><name sortKey="Deuschl, G" uniqKey="Deuschl G">G Deuschl</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Merner, Nd" uniqKey="Merner N">ND Merner</name></author><author><name sortKey="Girard, Sl" uniqKey="Girard S">SL Girard</name></author><author><name sortKey="Catoire, H" uniqKey="Catoire H">H Catoire</name></author><author><name sortKey="Bourassa, Cv" uniqKey="Bourassa C">CV Bourassa</name></author><author><name sortKey="Belzil, Vv" uniqKey="Belzil V">VV Belzil</name></author><author><name sortKey="Riviere, J B" uniqKey="Riviere J">J-B Rivière</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jimenez Jimenez, Fj" uniqKey="Jimenez Jimenez F">FJ Jiménez-Jiménez</name></author><author><name sortKey="Garcia Martin, E" uniqKey="Garcia Martin E">E García-Martín</name></author><author><name sortKey="Lorenzo Betancor, O" uniqKey="Lorenzo Betancor O">O Lorenzo-Betancor</name></author><author><name sortKey="Pastor, P" uniqKey="Pastor P">P Pastor</name></author><author><name sortKey="Alonso Navarro, H" uniqKey="Alonso Navarro H">H Alonso-Navarro</name></author><author><name sortKey="Agundez, Jag" uniqKey="Agundez J">JAG Agúndez</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thier, S" uniqKey="Thier S">S Thier</name></author><author><name sortKey="Lorenz, D" uniqKey="Lorenz D">D Lorenz</name></author><author><name sortKey="Nothnagel, M" uniqKey="Nothnagel M">M Nothnagel</name></author><author><name sortKey="Poremba, C" uniqKey="Poremba C">C Poremba</name></author><author><name sortKey="Papengut, F" uniqKey="Papengut F">F Papengut</name></author><author><name sortKey="Appenzeller, S" uniqKey="Appenzeller S">S Appenzeller</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yu, S" uniqKey="Yu S">S Yu</name></author><author><name sortKey="Chen, C M" uniqKey="Chen C">C-M Chen</name></author><author><name sortKey="Chen, Y C" uniqKey="Chen Y">Y-C Chen</name></author><author><name sortKey="Chang, Cw" uniqKey="Chang C">CW Chang</name></author><author><name sortKey="Chang, H S" uniqKey="Chang H">H-S Chang</name></author><author><name sortKey="Lyu, R K" uniqKey="Lyu R">R-K Lyu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Unal Gulsuner, H" uniqKey="Unal Gulsuner H">H Unal Gulsuner</name></author><author><name sortKey="Gulsuner, S" uniqKey="Gulsuner S">S Gulsuner</name></author><author><name sortKey="Mercan, Fn" uniqKey="Mercan F">FN Mercan</name></author><author><name sortKey="Onat, Oe" uniqKey="Onat O">OE Onat</name></author><author><name sortKey="Walsh, T" uniqKey="Walsh T">T Walsh</name></author><author><name sortKey="Shahin, H" uniqKey="Shahin H">H Shahin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stamelou, M" uniqKey="Stamelou M">M Stamelou</name></author><author><name sortKey="Charlesworth, G" uniqKey="Charlesworth G">G Charlesworth</name></author><author><name sortKey="Cordivari, C" uniqKey="Cordivari C">C Cordivari</name></author><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="K Gi, G" uniqKey="K Gi G">G Kägi</name></author><author><name sortKey="Sheerin, U M" uniqKey="Sheerin U">U-M Sheerin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Elble, R" uniqKey="Elble R">R Elble</name></author><author><name sortKey="Comella, C" uniqKey="Comella C">C Comella</name></author><author><name sortKey="Fahn, S" uniqKey="Fahn S">S Fahn</name></author><author><name sortKey="Hallett, M" uniqKey="Hallett M">M Hallett</name></author><author><name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name></author><author><name sortKey="Juncos, Jl" uniqKey="Juncos J">JL Juncos</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Apartis, E" uniqKey="Apartis E">E Apartis</name></author><author><name sortKey="Blancher, A" uniqKey="Blancher A">A Blancher</name></author><author><name sortKey="Meissner, Wg" uniqKey="Meissner W">WG Meissner</name></author><author><name sortKey="Guyant Marechal, L" uniqKey="Guyant Marechal L">L Guyant-Maréchal</name></author><author><name sortKey="Maltete, D" uniqKey="Maltete D">D Maltête</name></author><author><name sortKey="De Broucker, T" uniqKey="De Broucker T">T De Broucker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Whaley, Nr" uniqKey="Whaley N">NR Whaley</name></author><author><name sortKey="Putzke, Jd" uniqKey="Putzke J">JD Putzke</name></author><author><name sortKey="Baba, Y" uniqKey="Baba Y">Y Baba</name></author><author><name sortKey="Wszolek, Zk" uniqKey="Wszolek Z">ZK Wszolek</name></author><author><name sortKey="Uitti, Rj" uniqKey="Uitti R">RJ Uitti</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hopfner, F" uniqKey="Hopfner F">F Hopfner</name></author><author><name sortKey="Stevanin, G" uniqKey="Stevanin G">G Stevanin</name></author><author><name sortKey="Muller, Sh" uniqKey="Muller S">SH Müller</name></author><author><name sortKey="Mundwiller, E" uniqKey="Mundwiller E">E Mundwiller</name></author><author><name sortKey="Bungeroth, M" uniqKey="Bungeroth M">M Bungeroth</name></author><author><name sortKey="Durr, A" uniqKey="Durr A">A Durr</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lou, Js" uniqKey="Lou J">JS Lou</name></author><author><name sortKey="Jankovic, J" uniqKey="Jankovic J">J Jankovic</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hopfner, F" uniqKey="Hopfner F">F Hopfner</name></author><author><name sortKey="Erhart, T" uniqKey="Erhart T">T Erhart</name></author><author><name sortKey="Knudsen, K" uniqKey="Knudsen K">K Knudsen</name></author><author><name sortKey="Lorenz, D" uniqKey="Lorenz D">D Lorenz</name></author><author><name sortKey="Schneider, Sa" uniqKey="Schneider S">SA Schneider</name></author><author><name sortKey="Zeuner, Ke" uniqKey="Zeuner K">KE Zeuner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Elble, Rj" uniqKey="Elble R">RJ Elble</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chuang, W L" uniqKey="Chuang W">W-L Chuang</name></author><author><name sortKey="Lu, C S" uniqKey="Lu C">C-S Lu</name></author><author><name sortKey="Huang, Y Z" uniqKey="Huang Y">Y-Z Huang</name></author><author><name sortKey="Chen, R S" uniqKey="Chen R">R-S Chen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cohen, O" uniqKey="Cohen O">O Cohen</name></author><author><name sortKey="Pullman, S" uniqKey="Pullman S">S Pullman</name></author><author><name sortKey="Jurewicz, E" uniqKey="Jurewicz E">E Jurewicz</name></author><author><name sortKey="Watner, D" uniqKey="Watner D">D Watner</name></author><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Minen, Mt" uniqKey="Minen M">MT Minen</name></author><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hopfner, F" uniqKey="Hopfner F">F Hopfner</name></author><author><name sortKey="Muller, Sh" uniqKey="Muller S">SH Müller</name></author><author><name sortKey="Lorenz, D" uniqKey="Lorenz D">D Lorenz</name></author><author><name sortKey="Appenzeller, S" uniqKey="Appenzeller S">S Appenzeller</name></author><author><name sortKey="Klebe, S" uniqKey="Klebe S">S Klebe</name></author><author><name sortKey="Deuschl, G" uniqKey="Deuschl G">G Deuschl</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tzoulis, C" uniqKey="Tzoulis C">C Tzoulis</name></author><author><name sortKey="Zayats, T" uniqKey="Zayats T">T Zayats</name></author><author><name sortKey="Knappskog, Pm" uniqKey="Knappskog P">PM Knappskog</name></author><author><name sortKey="Muller, B" uniqKey="Muller B">B Müller</name></author><author><name sortKey="Larsen, Jp" uniqKey="Larsen J">JP Larsen</name></author><author><name sortKey="Tysnes, O B" uniqKey="Tysnes O">O-B Tysnes</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Deuschl, G" uniqKey="Deuschl G">G Deuschl</name></author><author><name sortKey="Raethjen, J" uniqKey="Raethjen J">J Raethjen</name></author><author><name sortKey="Hellriegel, H" uniqKey="Hellriegel H">H Hellriegel</name></author><author><name sortKey="Elble, R" uniqKey="Elble R">R Elble</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">BMC Neurol</journal-id><journal-id journal-id-type="iso-abbrev">BMC Neurol</journal-id><journal-title-group><journal-title>BMC Neurology</journal-title></journal-title-group><issn pub-type="epub">1471-2377</issn><publisher><publisher-name>BioMed Central</publisher-name><publisher-loc>London</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27881096</article-id><article-id pub-id-type="pmc">5120508</article-id><article-id pub-id-type="publisher-id">748</article-id><article-id pub-id-type="doi">10.1186/s12883-016-0748-3</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>A step toward essential tremor gene discovery: identification of extreme phenotype and screening of <italic>HTRA2</italic> and <italic>ANO3</italic></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Renaud</surname><given-names>Mathilde</given-names></name><address><email>mathilde.renaud@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Marcel</surname><given-names>Christophe</given-names></name><address><email>chrismarcel@free.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Rudolf</surname><given-names>Gabrielle</given-names></name><address><email>gabrielle.rudolf@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Schaeffer</surname><given-names>Mickaël</given-names></name><address><email>Mickael.schaeffer@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lagha-Boukbiza</surname><given-names>Ouhaïd</given-names></name><address><email>Ouhaid.boukbiza@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Chanson</surname><given-names>Jean-Baptiste</given-names></name><address><email>jeanbaptiste.chanson@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Chelly</surname><given-names>Jamel</given-names></name><address><email>jameleddine.chelly@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref><xref ref-type="aff" rid="Aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Anheim</surname><given-names>Mathieu</given-names></name><address><email>mathieu.anheim@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Tranchant</surname><given-names>Christine</given-names></name><address><phone>+ 33 3 88 12 85 31</phone><email>christine.tranchant@chru-strasbourg.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref></contrib><aff id="Aff1"><label>1</label>Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France</aff><aff id="Aff2"><label>2</label>Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France</aff><aff id="Aff3"><label>3</label>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France</aff><aff id="Aff4"><label>4</label>Département d’informations médicales, Hôpitaux universitaires de Strasbourg, Hôpital civil, 1 place de l’Hôpital, 67000 Strasbourg, France</aff><aff id="Aff5"><label>5</label>Service de Diagnostic génétique, Nouvel hôpital civil, 67000 Strasbourg Cedex, France</aff></contrib-group><pub-date pub-type="epub"><day>23</day><month>11</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>23</day><month>11</month><year>2016</year></pub-date><pub-date pub-type="collection"><year>2016</year></pub-date><volume>16</volume><elocation-id>238</elocation-id><history><date date-type="received"><day>10</day><month>9</month><year>2015</year></date><date date-type="accepted"><day>10</day><month>11</month><year>2016</year></date></history><permissions><copyright-statement>© The Author(s). 2016</copyright-statement><license license-type="OpenAccess"><license-p><bold>Open Access</bold>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>) applies to the data made available in this article, unless otherwise stated.</license-p></license></permissions><abstract id="Abs1"><sec><title>Background</title><p>Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of <italic>HTRA2</italic> p.G399S, and <italic>ANO3</italic> p. W490C, p. R484 W and p. S685G mutations.</p></sec><sec><title>Methods</title><p>Between June 2011 and November 2013, all consecutive patients suspected with ET were prospectively included in a prospective, monocentric study. Family history, age at onset (AAO), features of tremor, benefit of alcohol and drugs, electrophysiological recording findings were collected. Sanger sequencing was performed for <italic>HTRA2</italic> and <italic>ANO3</italic> mutations screening.</p></sec><sec><title>Results</title><p>Sixty eight patients were investigated. Fourteen diagnosed with psychogenic (5) or dystonic tremor (9) were excluded. Regarding the 54 ET patients, mean AAO was 48 years (6–77), and mean disease duration 15 years (1–55). Bimodal distribution of AAO was consistent with phenotypic subgroups. In patients with AAO before 30 years, marked benefit of alcohol (<italic>p</italic> < 0.01) and ET family history (<italic>p</italic> < 0.01) were more frequent and the disease progression less severe (<italic>p</italic> < 0.0001). Neither <italic>HTRA2</italic> nor <italic>ANO3</italic> mutation were identified in our patients.</p></sec><sec><title>Conclusions</title><p>Our data support that distinct ET phenotypic subgroups may be encountered. We recommend to study separately extreme phenotypes of ET, particularly autosomal dominant families with early AAO (<30 years) and marked benefit of alcohol, to facilitate the identification of ET genes. Electromyographic recording remains a support to distinguish ET from differential diagnosis. <italic>HTRA2</italic> and <italic>ANO3</italic> mutations are not common causes of ET.</p></sec></abstract><kwd-group xml:lang="en"><title>Keywords</title><kwd>Essential tremor</kwd><kwd>Electrophysiological recording</kwd><kwd>Extreme phenotype</kwd><kwd><italic>ANO3</italic></kwd><kwd><italic>HTRA2</italic></kwd></kwd-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© The Author(s) 2016</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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