@article{ meneret_pleiotropic_2014,
  title = {The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia},
  volume = {83},
  issn = {1526-632X},
  doi = {10.1212/WNL.0000000000000794},
  abstract = {OBJECTIVE: To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders.
METHODS: A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, neurophysiologic and video-oculographic recording, imaging, laboratory investigations, and ATM analysis were performed.
RESULTS: In comparison with typical A-T cases, our patients demonstrated later mean age at onset (6.1 vs 2.5 years, p {\textless} 0.0001), later loss of walking ability (p = 0.003), and longer survival (p = 0.0039). The presenting feature was ataxia in 71% and dysarthria and dystonia in 14% each. All patients displayed movement disorders, among which dystonia and subcortical myoclonus were the most common (86%), followed by tremor (43%). Video-oculographic recordings revealed mostly dysmetric saccades and 46% of patients had normal latencies (i.e., no oculomotor apraxia) and velocities. The α-fetoprotein (AFP) level was normal in 7%, chromosomal instability was found in 29% (vs 100% of typical patients, p = 0.0006), and immunoglobulin deficiency was found in 29% (vs 69%, p = 0.057). All patients exhibited 2 ATM mutations, including at least 1 missense mutation in 79% of them (vs 36%, p = 0.0067).
CONCLUSION: There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders. Karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis. In case of a compatible phenotype, A-T should be considered even if age at onset is late and progression is slow.},
  language = {en},
  number = {12},
  journal = {Neurology},
  author = {Méneret, Aurélie and Ahmar-Beaugendre, Yara and Rieunier, Guillaume and Mahlaoui, Nizar and Gaymard, Bertrand and Apartis, Emmanuelle and Tranchant, Christine and Rivaud-Péchoux, Sophie and Degos, Bertrand and Benyahia, Baya and Suarez, Felipe and Maisonobe, Thierry and Koenig, Michel and Durr, Alexandra and Stern, Marc-Henri and Dubois d'Enghien, Catherine and Fischer, Alain and Vidailhet, Marie and Stoppa-Lyonnet, Dominique and Grabli, David and Anheim, Mathieu},
  month = {September},
  year = {2014},
  pages = {1087--1095}
}

{"_id":"ZaNZN36wz5vXsR58h","authorIDs":[],"author_short":["Méneret, A.","Ahmar-Beaugendre, Y.","Rieunier, G.","Mahlaoui, N.","Gaymard, B.","Apartis, E.","Tranchant, C.","Rivaud-Péchoux, S.","Degos, B.","Benyahia, B.","Suarez, F.","Maisonobe, T.","Koenig, M.","Durr, A.","Stern, M.","d'Enghien, C.<nbsp>D.","Fischer, A.","Vidailhet, M.","Stoppa-Lyonnet, D.","Grabli, D.","Anheim, M."],"bibbaseid":"mneret-ahmarbeaugendre-rieunier-mahlaoui-gaymard-apartis-tranchant-rivaudpchoux-degos-benyahia-suarez-maisonobe-koenig-durr-stern-denghien-fischer-vidailhet-stoppalyonnet-grabli-anheim-thepleiotropicmovementdisordersphenotypeofadultataxiatelangiectasia-2014","bibdata":{"abstract":"OBJECTIVE: To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders. METHODS: A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, neurophysiologic and video-oculographic recording, imaging, laboratory investigations, and ATM analysis were performed. RESULTS: In comparison with typical A-T cases, our patients demonstrated later mean age at onset (6.1 vs 2.5 years, p \\textless 0.0001), later loss of walking ability (p = 0.003), and longer survival (p = 0.0039). The presenting feature was ataxia in 71% and dysarthria and dystonia in 14% each. All patients displayed movement disorders, among which dystonia and subcortical myoclonus were the most common (86%), followed by tremor (43%). Video-oculographic recordings revealed mostly dysmetric saccades and 46% of patients had normal latencies (i.e., no oculomotor apraxia) and velocities. The α-fetoprotein (AFP) level was normal in 7%, chromosomal instability was found in 29% (vs 100% of typical patients, p = 0.0006), and immunoglobulin deficiency was found in 29% (vs 69%, p = 0.057). All patients exhibited 2 ATM mutations, including at least 1 missense mutation in 79% of them (vs 36%, p = 0.0067). CONCLUSION: There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders. Karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis. In case of a compatible phenotype, A-T should be considered even if age at onset is late and progression is slow.","author":["Méneret, Aurélie","Ahmar-Beaugendre, Yara","Rieunier, Guillaume","Mahlaoui, Nizar","Gaymard, Bertrand","Apartis, Emmanuelle","Tranchant, Christine","Rivaud-Péchoux, Sophie","Degos, Bertrand","Benyahia, Baya","Suarez, Felipe","Maisonobe, Thierry","Koenig, Michel","Durr, Alexandra","Stern, Marc-Henri","d'Enghien, Catherine Dubois","Fischer, Alain","Vidailhet, Marie","Stoppa-Lyonnet, Dominique","Grabli, David","Anheim, Mathieu"],"author_short":["Méneret, A.","Ahmar-Beaugendre, Y.","Rieunier, G.","Mahlaoui, N.","Gaymard, B.","Apartis, E.","Tranchant, C.","Rivaud-Péchoux, S.","Degos, B.","Benyahia, B.","Suarez, F.","Maisonobe, T.","Koenig, M.","Durr, A.","Stern, M.","d'Enghien, C.<nbsp>D.","Fischer, A.","Vidailhet, M.","Stoppa-Lyonnet, D.","Grabli, D.","Anheim, M."],"bibtex":"@article{ meneret_pleiotropic_2014,\n title = {The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia},\n volume = {83},\n issn = {1526-632X},\n doi = {10.1212/WNL.0000000000000794},\n abstract = {OBJECTIVE: To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders.\nMETHODS: A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, neurophysiologic and video-oculographic recording, imaging, laboratory investigations, and ATM analysis were performed.\nRESULTS: In comparison with typical A-T cases, our patients demonstrated later mean age at onset (6.1 vs 2.5 years, p {\\textless} 0.0001), later loss of walking ability (p = 0.003), and longer survival (p = 0.0039). The presenting feature was ataxia in 71% and dysarthria and dystonia in 14% each. All patients displayed movement disorders, among which dystonia and subcortical myoclonus were the most common (86%), followed by tremor (43%). Video-oculographic recordings revealed mostly dysmetric saccades and 46% of patients had normal latencies (i.e., no oculomotor apraxia) and velocities. The α-fetoprotein (AFP) level was normal in 7%, chromosomal instability was found in 29% (vs 100% of typical patients, p = 0.0006), and immunoglobulin deficiency was found in 29% (vs 69%, p = 0.057). All patients exhibited 2 ATM mutations, including at least 1 missense mutation in 79% of them (vs 36%, p = 0.0067).\nCONCLUSION: There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders. Karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis. In case of a compatible phenotype, A-T should be considered even if age at onset is late and progression is slow.},\n language = {en},\n number = {12},\n journal = {Neurology},\n author = {Méneret, Aurélie and Ahmar-Beaugendre, Yara and Rieunier, Guillaume and Mahlaoui, Nizar and Gaymard, Bertrand and Apartis, Emmanuelle and Tranchant, Christine and Rivaud-Péchoux, Sophie and Degos, Bertrand and Benyahia, Baya and Suarez, Felipe and Maisonobe, Thierry and Koenig, Michel and Durr, Alexandra and Stern, Marc-Henri and Dubois d'Enghien, Catherine and Fischer, Alain and Vidailhet, Marie and Stoppa-Lyonnet, Dominique and Grabli, David and Anheim, Mathieu},\n month = {September},\n year = {2014},\n pages = {1087--1095}\n}","bibtype":"article","doi":"10.1212/WNL.0000000000000794","id":"meneret_pleiotropic_2014","issn":"1526-632X","journal":"Neurology","key":"meneret_pleiotropic_2014","language":"en","month":"September","number":"12","pages":"1087--1095","title":"The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia","type":"article","volume":"83","year":"2014","bibbaseid":"mneret-ahmarbeaugendre-rieunier-mahlaoui-gaymard-apartis-tranchant-rivaudpchoux-degos-benyahia-suarez-maisonobe-koenig-durr-stern-denghien-fischer-vidailhet-stoppalyonnet-grabli-anheim-thepleiotropicmovementdisordersphenotypeofadultataxiatelangiectasia-2014","role":"author","urls":{},"downloads":0},"bibtype":"article","biburl":"https://copy.com/hwYBEyalcoSXeycD","creationDate":"2015-03-20T15:16:02.702Z","downloads":0,"keywords":[],"search_terms":["pleiotropic","movement","disorders","phenotype","adult","ataxia","telangiectasia","méneret","ahmar-beaugendre","rieunier","mahlaoui","gaymard","apartis","tranchant","rivaud-péchoux","degos","benyahia","suarez","maisonobe","koenig","durr","stern","d'enghien","fischer","vidailhet","stoppa-lyonnet","grabli","anheim"],"title":"The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia","year":2014,"dataSources":["5MkK9khFbZvmsLDrT"]}