Kirkham, Fenella J.
https://orcid.org/0000-0002-2443-7958
Mayo Clinic
University Hospital Southampton NHS Foundation Trust
Citations 3
American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults
DeBaun, Michael R. , Jordan, Lori C. , King, Allison A. , Schatz, Jeffrey , Fox, C. K., Telfer, Paul , Kraut, Michael A. , Daraz, Lubna , Kirkham, Fenella J. , Murad, M. Hassan , Fox, Christine K. , Murad, M Hassan , King, Allison A , DeBaun, Michael R , Vichinsky, Elliott P. , McKinstry, Robert C.
Blood Advances | April 16, 2020 | Volume: 4 | Issue: 8 | Pages: 1554-1588
10.1182/bloodadvances.2019001142
Abstract Background: Central nervous system (CNS) complications are among the most common, devastating sequelae of sickle cell disease (SCD) occurring throughout the lifespan. Objective: These evidence-based guidelines of the American Society of Hematology are intended to support the SCD community in decisions about prevention, diagnosis, and treatment of the most common neurological morbidities in SCD. Methods: The Mayo Evidence-Based Practice Research Program supported the guideline development process, including updating or performing systematic evidence reviews. The panel used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach, including GRADE evidence-to-decision frameworks, to assess evidence and make recommendations. Results: The panel placed a higher value on maintaining cognitive function than on being alive with significantly less than baseline cognitive function. The panel developed 19 recommendations with evidence-based strategies to prevent, diagnose, and treat CNS complications of SCD in low-middle– and high-income settings. Conclusions: Three of 19 recommendations immediately impact clinical care. These recommendations include: use of transcranial Doppler ultrasound screening and hydroxyurea for primary stroke prevention in children with hemoglobin SS (HbSS) and hemoglobin Sβ0 (HbSβ0) thalassemia living in low-middle–income settings; surveillance for developmental delay, cognitive impairments, and neurodevelopmental disorders in children; and use of magnetic resonance imaging of the brain without sedation to detect silent cerebral infarcts at least once in early-school-age children and once in adults with HbSS or HbSβ0 thalassemia. Individuals with SCD, their family members, and clinicians should become aware of and implement these recommendations to reduce the burden of CNS complications in children and adults with SCD.
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
Blitterswijk, Marka van , Vlam, Lotte, Doormaal, Perry T.C. van , Seelen, Meinie, Medic, Jelena, Dooijes, Dennis , Visser, Marianne de, Kooi, Anneke J. van der , Raaphorst, Joost , Schelhaas, Helenius J. , Pol, W. Ludo van der , Veldink, Jan H. , Berg, Leonard H. van den , Aisen, Paul , Petersen, Ronald C., Clifford, R. Jack, Jagust, William, Trojanowki, John Q., Liu, Enchi , Montine, Tom, Gamst, Anthony, Thomas, Ronald G. , Walter, Sarah , Gessert, Devon, Sather, Tamie, Harvey, Danielle, Kornak, John , Felmlee, Joel P. , Schuff, Norbert, Alexander, Gene, DeCarli, Charles, Bandy, Dan, Foster, Norm, Reiman, Eric M., Mathis, Chet, Cairns, Nigel J. , Taylor‐Reinwald, Lisa, Shaw, Les, Korecka, Magdalena , Crawford, Karen , Neu, Scott, Foroud, Tatiana, Potkin, Steven, Kachaturian, Zaven, Frank, R.T., Dolen, Sara, Schneider, Lon S. , Pawluczyk, Sonia, Spann, Bryan M., Brewer, James B., Vanderswag, Helen, Heidebrink, Judith L. , Petersen, Ronald C. , Johnson, Kris , Doody, Rachelle S., Villanueva‐Meyer, Javier , Chowdhury, Munir , Honig, Lawrence S., Bell, Karen L. , Mintun, Mark A., Schneider, Stacy, Marson, Daniel , Griffith, Randall, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo‐Morrell, Leyla, Duara, Ranjan , Varón, Daniel , Roberts, Peggy, Albert, Marilyn , Onyike, Chiadi U. , Kielb, Stephanie , Glodzik, Lidia , Doraiswamy, P. Murali , Petrella, Jeffrey R. , Arnold, Steven E. , Karlawish, Jason H., Smith, Charles D., Hardy, P. , Lopez, Oscar L., Oakley, MaryAnn, Simpson, Donna M., Ismail, M. Saleem, Brand, Connie, Mulnard, Ruth A., Thai, Gaby , Mc-Adams-Ortiz, Catherine, Martin-Cook, Kristen, Devous, Michael D. , Cellar, Janet S., Anderson, Heather S., Swerdlow, Russell H. , Bartzokis, George, Lu, Po H. , Apostolova, Liana G. , Graff‐Radford, Neill R. , Parfitt, Francine, Farlow, Martin, Herring, Scott, Hake, Ann Marie , Dyck, Christopher H. van , Carson, Richard E. , MacAvoy, Martha G., Chertkow, Howard, Bergman, Howard , Hosein, Chris, Black, Sandra, Caldwell, Curtis, Assaly, Michele, Kertesz, Andrew , Rogers, John, Trost, Dick, Bernick, Charles , Munic, Donna, Wu, Chuang‐Kuo, Johnson, Nancy E., Mesulam, Marsel, Sadowsky, Carl, Villena, Teresa, Johnson, Kathleen A., Reynolds, Brigid, Sperling, Reisa A., Frey, Meghan , Johnson, Keith A. , Rosen, Allyson , Tinklenberg, Jared, Belden, Christine M. , Jacobson, Sandra A. , Wolday, Saba, Bwayo, Salome K., Lerner, Alan J. , Hudson, Leon, Ogrocki, Paula, Kittur, Smita, Borrie, Michael, Lee, T‐Y, Bartha, Robert , Asthana, Sanjay , Tariot, Pierre N. , Fleisher, Adam , Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Hendin, Barry , Kataki, Maria , Zimmerman, Earl A. , Celmins, Dzintra, Brown, Alice D., Blank, Karen, Anderson, Karen, Santulli, Robert B. , Schwartz, Eben S., Williamson, Jeff D. , Watkins, Franklin, Ott, Brian R. , Querfurth, Henry, Tremont, Geoffrey , Salloway, Stephen , Malloy, Paul, Correia, Stephen , Rosen, Howard J., Mintzer, Jacobo , Longmire, Crystal Flynn, Spicer, Kenneth, Kwon, Sun-Uck, Kim, Joon‐Tae , Cho, Ki-Hyun , Ko, Y.J., Lee, Soo Joo , Cha, Jae-Kwan, Shin, Dong-Jin, Jang, Hyuk Jae, Choi, Nack‐Cheon , Hong, Seok-Chang, Rha, Joung-Ho, Kim, Eung‐Gyu , Choi, Jay Chol , Shin, Won Chul , HyukHeo, Sung, Chung, Kyung Cheon, Lee, Jun Hong , Bae, Hee‐Joon , Lee, Tae‐Kyeong , Jeong, Dushin, Lee, Jun , Ashwal, Steve, deVeber, Gabrielle , Ichord, Rebecca , Kirkham, Fenella J. , Lynch, John K., O’Callaghan, Finbar , Pavlakis, Steve, Sébire, Guillaume , Willan, Andrew R. , Dlamini, Noma, Nowak-Göttl, Ulrike, Düring, Christine, Plumb, Patricia , Journeycake, Janna M., Bruinhorst, Katrina van de, Gossett, Daniel R., Chavez, Marta Isabel Hernandez, Barnes, Chris , Furmedge, Janine, Gordon, Anne , Benedict, Susan, Bale, James F. , Nielson, Denise, Kabbouche, Marielle A., Karti, Pooja, Phillips, Tonya, Rizkallah, Élie, Zamel, Khaled, Wiznitzer, Max , Lidsky, Karen , Bernard, Timothy J. , Goldenberg, Neil A. , Booth, Frances, Nash, Monica, Beslow, Lauren A. , Carpenter, Jessica L. , Weinstein, Steven L., Li, Kan , Smith, Robin, Maytal, Joseph, Sy-Kho, Rosemarie, Yager, Jerome Y. , Massicotte, Patti, McClure, Chalmer, Hukin, Juliet, Bucevska, Marija, Kent, Sheila, Riviello, James J. , Rivkin, Michael, Trenor, Cameron C. , Whelan, Harry T. , Goodman, Sharon, Levinson, Kim, Kolk, Anneli , Laugesaar, Rael , Talvik, Tiina, Imam, Hussain, Thomas, Terrence , Kirton, Adam , Ganesan, Vijeya , Saengpattrachai, Montri, Crosswell, Hal E., Mancuso, Ann, Yeh, E. Ann , Humpherys, Peter, Abraham, Lisa , Alveal, Lucila Andrade, Ortiz, Manuel Arriaza, Altuna, Diana, Maxit, Clarisa, González, Verónica , Alam, Muhammad Rafiqul , Buckley, David , Penney, Sharon, Grabowski, Eríc F. , Deray, Marcel J., Khatib, Zaid, Kosofsky, Barry E. , Leifer, Dana , Nass, Ruth, Wong, Virginia, Catsman, Coriene E. , El-Hakam, Lisa Michael, Cholette, Jill M., Narang, Shalu, Lerner, Norma B., Carpenter, Shannon L. , Bischoff, Kurt, Frei‐Jones, Melissa , Masur, David, Gallentine, William B., Rende, Elizabeth K., Provenzale, James, Voyvodic, James , Song, Allen W. , Conklin, Terrie, O’Hara, Kathryn, Seinfeld, Syndi, Conry, Joan A. , Ayala, Jennifer , Facchini, Ronda, Sigalova, Maryana, Hannigan, James, Mancini, Ann , Curran, John S. , Ahlm, Sarah, Renaldi, J., Umanzour, Diana K, Kim, Andrew, Hamidullah, Aaliyah, Litherland, Claire , Bonner, Melanie, Xu, Yuan , Water, Virginia Van de, Grasso, Susan, Culbert, James, Bush, Brian J., Chandrasekaran, Sreedevi, Davis, Lori L. , Rogers, Christiane, Sabo, Cynthia , Wang, Helen H. , Lee, Ting‐Yim , Rheenen, Wouter van , Huisman, Mark H. B. , Weiner, Michael D. , Toga, Arthur W. , Beckett, Laurel , Green, Robert C. , Saykin, Andrew J. , Morris, John C. , Donohue, Michael , Dale, Anders M. , Bernstein, Matt A. , Fox, Nick C. , Thompson, Paul M. , Koeppe, Robert A. , Reiman, Eric M. , Chen, Kewei , Mathis, Chet, Lee, Virginia M.‐Y. , Shen, Li , Snyder, Peter J. , Kaye, Jeffrey , Quinn, Joseph F. , Lord, Joanne L. , Stern, Yaakov , Honig, Lawrence S. , Clark, David , Grossman, Hillel, Shah, Raj C. , Duara, Ranjan , Rusinek, Henry , Leon, Mony J. de , Karlawish, Jason , Wolk, David A. , Jicha, Gregory A. , Lopez, Oscar L., Diaz‐Arrastia, Ramon , Levey, Allan I. , Lah, James J. , Burns, Jeffrey M. , Silverman, Daniel H.S. , Johnson, Heather K. , Farlow, Martin R. , Stefanovic, Bojana , Hsiung, Ging‐Yuek Robin , Feldman, Howard , Martínez, Walter Fabián , Turner, Raymond Scott , Sabbagh, Marwan Noel , Killiany, Ronald , Norbash, Alexander , Obisesan, Thomas O. , Fletcher, Evan M. , Carmichael, Owen , Johnson, Sterling C. , Carlsson, Cynthia M. , Potkin, Steven G. , Preda, Adrian , Nguyen, Dana R. , Scharre, Douglas W. , Pearlson, Godfrey D. , Sink, Kaycee M. , Miller, Bruce L. , Shin, Dong‐Ick , Kim, Yong‐Jae , Rha, Joung‐Ho , Hong, Keun‐Sik , Sohn, Sung‐Il , Park, Jong‐Ho , Park, Jong‐Moo , Park, Tai Hwan , Han, Moon‐Ku , Kwon, Hyung‐Min , Lee, Kyung‐Bok , Ashwal, Steven, Ferriero, Donna Marie , Fullerton, Heather J. , Lynch, John K., Sofronas, Marianne , Elbers, Jorina M. , Krümpel, Anne , Monagle, Paul , Mackay, Mark T. , Abdalla, Abdalla , Chadehumbe, Madeline , Friedman, Neil , Armstrong, Jennifer , Chang, Taeun , Sy-Kho, Rose Marrie, Björnson, Bruce , Hukin, Juliette , Amlie‐Lefond, Catherine , Fox, Christine K. , Golomb, Meredith R. , Heyer, Geoffrey L. , Tatishvili, Nana Nino , Jordan, Lori C. , Chan, Anthony K.C. , Kovacevic, Gordana S. , Epstein, Leon G. , Bagiella, Emilia , Hinton, Veronica J. , Voyvodic, James T., Glauser, Tracy A. , Weiss, Erica F , Kushner, David B. , BUSH, BRIAN J. , Noebels, Jeffrey L. , van Blitterswijk, Marka , Veldink, Jan H
Neurology | July 27, 2012 | Volume: 79 | Issue: 9 | Pages: 878-882
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
Ohno, Kinji , Tsujino, Akira, Brengman, Joan M., Harper, C. Michel , Bajzer, Željko, Udd, Bjarne, Beyring, Roger, Robb, S., Kirkham, Fenella J. , Engel, Andrew G.
Proceedings of the National Academy of Sciences | July 26, 2002 | Volume: 98 | Issue: 4 | Pages: 2017-2022
Choline acetyltransferase (ChAT; EC 2.3.1.6 ) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Mutations in genes encoding ChAT affecting motility exist in Caenorhabditis elegans and Drosophila , but no CHAT mutations have been observed in humans to date. Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal episodes of apnea (CMS-EA). Studies of the neuromuscular junction in this disease show a stimulation-dependent decrease of the amplitude of the miniature endplate potential and no deficiency of the ACh receptor. These findings point to a defect in ACh resynthesis or vesicular filling and to CHAT as one of the candidate genes. Direct sequencing of CHAT reveals 10 recessive mutations in five patients with CMS-EA. One mutation (523insCC) is a frameshifting null mutation. Three mutations (I305T, R420C, and E441K) markedly reduce ChAT expression in COS cells. Kinetic studies of nine bacterially expressed ChAT mutants demonstrate that one mutant (E441K) lacks catalytic activity, and eight mutants (L210P, P211A, I305T, R420C, R482G, S498L, V506L, and R560H) have significantly impaired catalytic efficiencies.