4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Autor: Suh Young Jeong, Penelope Hogarth, Andrew Placzek, Allison M Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora Gray, Martina Ralle, Megan Duffy, Leila Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L Woltjer, Ody CM Sibon, Susan J Hayflick

Publikováno v: EMBO Molecular Medicine, Vol 11, Iss 12, Pp 1-17 (2019)

Abstract Pantothenate kinase‐associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. Lack of a good mammalian model has impeded studies of pathogenesis and development of

Externí odkaz: https://doaj.org/article/39dd68cc193f40f0bd70717b8309a877

Transportation innovation to aid Parkinson disease trial recruitment

Autor: Samuel Frank, Sarah Berk, Laura Hernandez, Penelope Hogarth, Holly A. Shill, Bernadette Siddiqi, David K. Simon

Publikováno v: Contemporary Clinical Trials Communications, Vol 16, Iss , Pp - (2019)

Among the barriers to participation in clinical trials, transportation to and from study sites may be a prominent issue. Patients with Parkinson's disease have unique circumstances that add to the barriers including dementia, loss of driving ability,

Externí odkaz: https://doaj.org/article/0f60f51d551a4450936a115d88c2e6ca

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management

Autor: Penelope Hogarth

Publikováno v: Journal of Movement Disorders, Vol 8, Iss 1, Pp 1-13 (2015)

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron depos

Externí odkaz: https://doaj.org/article/684852d27a1f4f3bb67e0c154f35ffce

Predictors of multi-domain cognitive decline following DBS for treatment of Parkinson's disease

Autor: Johannes C. Rothlind, Michele K. York, Ping Luo, Kim Carlson, William J. Marks, Frances M. Weaver, Matthew Stern, Kenneth A. Follett, John E. Duda, Domenic J. Reda, Kenneth Follett, Frances Weaver, Dolores Ippolito, Gatana Stoner, Tammy Barnett, Ken Bukowski, Rosemarie DeNicolo, Kwan Hur, Joyce Jimenez, Jan Motyka, Domenic Reda, Theresa Simon, Bharat Thakkar, Robert Woolson, Carol Fye, William Gagne, Crystal Harris, Jill Heemskerk, Claudia Moy, Paul Sheehy, Timothy O'Leary, Grant D. Huang, Louis Fiore, Robert Hall, Kevin Stroupe, Kim Burchiel, William Koller, Rajesh Pahwa, Johannes Rothlind, Oren Sagher, Roy Bakay, Rick Chappell, Robert Hart, Robert Holloway, George McCabe, Margaret Schenkman, Jamal Taha, Julia Buckelew, Marilyn Garin, Sharon Matzek, Donna Smith, Jeff Bronstein, John Duda, Penelope Hogarth, Kathryn Holloway, Stacy Horn, Eugene C. Lai, Ali Samii, null Farah Atassi, Cecilia Bello, Lisette Bunting-Perry, Tina Conn, Alice Cugley, Nanette Eubank, Linda Fincher, Romay Franks, Tammy Harris, Mariann Haselman, Susan Heath, Miriam Hirsch, Virginia Janovsky, Elaine Lanier, Mary Lloyd, Susan Loehner, Susan O'Connor, Ligaya Ordonez, Heather Maccarone, Kelli Massey-Makhoul, Mary Matthews, Elizabeth Meyn, Keiko Mimura, Wes Morrow, Tammy Searles, Jamye Valotta, Usha Vasthare, Monica Volz, Constance Ward, Rebecca Warker, Heidi Watson, Pamela Willson, Mark Baron, Matthew Brodsky, Vincent Calabrese, Gordon Campbell, Amy Colcher, Emad Farag, Eva Henry, Jyh-Gong Hou, Gail Kang, Galit Kleiner-Fisman, Jeff Kraakevik, John Nutt, Jill Ostrem, Aliya Sarwar, Indu Subramanian, Zeba Vanek, Gordon Baltuch, Antonio De Salles, Jorge Eller, Paul Larson, Richard Simpson, Philip Starr, William Carne, Tom Erikson, Jeffrey Kreutzer, Mario Mendez, Paul Moberg, John Ragland, Ronald Seel, Daniel Storzbach, Alexander Troster, Michele York, Jurg Jaggi

Publikováno v: Parkinsonism & Related Disorders. 95:23-27

Statistically and clinically significant cognitive declines are observed in a small subset of individuals with Parkinson's Disease (PD) following treatment with Deep Brain Stimulation (DBS).We examine the association between multi-domain cognitive de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c1110a91737f881735cc2b56c7f52e
https://doi.org/10.1016/j.parkreldis.2021.12.011

Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder

Autor: Allison Gregory, Jenny L. Wilson, Penelope Hogarth, Susan J. Hayflick

Publikováno v: Pediatric neurology. 138

Down syndrome regression disorder (DSRD) is characterized by the sudden loss of adaptive function, cognitive-executive function, and language with abnormal sleep and/or motor control.Clinical, laboratory, and imaging data from three individuals with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ba66d3539285e3963e3106cb2912b3
https://pubmed.ncbi.nlm.nih.gov/36270151