These websites provide information on APBD and related genetic diseases, including genetic testing and screening programs, reimbursement, access to support networks, ongoing research and clinical trials, potential therapies, and extensive links to related information.
Association for Glycogen Storage Disease
The Association helps parents and people with glycogen storage disease (GSD) communicate and share successes, concerns, useful findings and support. It seeks to increase public awareness of the condition and stimulate research on glycogen storage diseases. The website provides basic information about GSDs, an e-mail system called GSDNET to allow communication between families, individuals and health professionals and inks to other sites with information on GSD.
AGSD NEWSLETTER winter 2017 | Dues 10-16
ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. Learn more about clinical studies and about this site, including relevant history, policies, and laws.
The Doctor’s Doctor
This web site is dedicated to patient empowerment. Much of the information a physician uses to make a diagnosis comes from clinical laboratory tests and tissue biopsies. These tests are usually overseen or interpreted by a pathologist. This site is run by pathologists who want to help patients understand their test results and diagnoses in order to help patients make better informed healthcare decisions.
Foundation for Peripheral Neuropathy
The Foundation for Peripheral Neuropathy works to educate the public and healthcare professionals, provide state-of-the-art treatment for patients with peripheral neuropathy, and will be the catalyst for advancing innovative therapeutic developments and accelerating a cure for painful neuropathies.
Genetic Alliance is a nonprofit health advocacy network that includes more than 1,000 disease-specific advocacy organizations and thousands of universities, companies, government agencies, and public policy organizations. The website is a place to find shared resources, creative tools, and innovative programs. In particular their Resource Repository is an electronic collection of documents, links, audio, and video files contributed by the global health community in areas such as newborn screening, family health history, genetic testing, reimbursement, research, drug development, community engagement, and more.
Jewish Genetic Disease Consortium (JGDC)
JGDC increases awareness about Jewish genetic diseases and encourages timely and appropriate genetic screening for all persons of Jewish heritage. It provides information for the public, rabbis and cantors, and medical professionals on Jewish Genetic diseases and genetics and carrier screening.
National Institutes of Health – Office of Rare Diseases Research
ORDR is part of the National Center for Advancing Translational Sciences (NCATS) . The goals of ORDR are to identify, stimulate, coordinate and support research to respond to the needs of patients who have any one of the approximately 6,800 rare diseases known today.
National Organization for Rare Disorders
This unique federation of voluntary health organizations is dedicated to helping people with rare diseases and the organizations that serve them through programs of education, advocacy, research, and service. It provides searchable databases on rare diseases and patient organizations as well as specific resources for patients and families, medical professionals and advocacy.
National Tay-Sachs & Allied Diseases Assoc (NTSAD)
This is one of the oldest patient advocacy groups in the US, focusing on funding research, supporting families and individuals worldwide, and raising awareness to prevent Tay-Sachs disease. The site covers potential therapies, current clinical trials, information on support services, explanations of various genetic diseases, and more.
Victor Centers for the Prevention of Jewish Genetic Diseases
The Center, which is based out of the Einstein Medical Center in Philadelphia, provides Information on Jewish Genetic Diseases, screening programs, a glossary of genetic terms, a media library and information for healthcare professionals and clergy.
WebMD: Brain & Nervous System Health Center
This short synopsis includes links to further resources for the public
Neurology Now Magazine
The bi-monthly publication of the American Academy of Neurology, this free, award-winning magazine features advances in the diagnosis and treatment of neurologic diseases. It provides expert advice on wellness and disease prevention, new medications and therapies, and strategies for coping effectively with neurologic disorders.
Busard HL, Gabreëls-Festen AA, Renier WO, et al. Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol. 1991 Apr;29(4):448-51. Institute of Neurology, University Hospital Nijmegen, The Netherlands.
McDonald TD, Faust PL, Bruno C, DiMauro S, Goldman JE. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology. 1993 Apr;43(4):785-90. Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY.
Lossos, A., Meiner, Z., Barash, V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen branching enzyme gene. Ann Neurol 44:867-72, 1992.
Lossos A, Barash V, Meiner V, et al. Glycogen Branching Enzyme (GBE) Gene Mutation in Adult Polyglucosan Body Disease (APBD). Journal of Molecular Neuroscience. Vol 13, part 3, 231-232, 1999. HUMANA PRESS INC
Ziemssen F, Sindern E, Schröder JM, et al. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol. 2000 Apr;47(4):536-40. Department of Neurology, Ruhr University Bochum, Germany.
Bruno C, Servidei S, Shanske S, et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol. 1993 Jan;33(1):88-93. Muscular Dystrophy Association, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY.
Lossos A, Barash V, Soffer D, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol. 1991 Nov;30(5):655-62. Department of Neurology, Hadassah University Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Robitaille Y, Carpenter S, Karpati G, DiMauro SD. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora’s disease and normal ageing. Brain. 1980 Jun;103(2):315-36.
Sindern E, Ziemssen F, Ziemssen T, et al. Adult polyglucosan body disease: a postmortem correlation study. Neurology. 2003 Jul 22;61(2):263-5. Department of Neurology, BG-Kliniken Bergmannsheil, Ruhr University, Bochum, Germany.
Trivedi JR, Wolfe GI, Nations SP, et al. Adult polyglucosan body disease associated with lewy bodies and tremor. Arch Neurol. 2003 May;60(5):764-6. Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX.
Hellmann MA1, Kakhlon O, Landau EH, Sadeh M, Giladi N, Schlesinger I, Kidron D, Abramsky O, Reches A, Argov Z, Rabey JM, Chapman J, Rosenmann H, Gal A, Moshe Gomori J, Meiner V, Lossos A. Frequent misdiagnosis of adult polyglucosan body disease. J Neurol. 2015 Jul 21. [Epub ahead of print]
Medscape eMedicine – Glycogen Storage Diseases Types I-VII Dr. Kolodny, January 25, 2012.
Nuffield Department of Medicine – Deciphering glycogenin action during eukaryotic glycogen synthesis
Polyglucosan Body Disease, Adult form; APBD. Created by Victor A. McKusick, 6/4/1986; Updated by Cassandra L. Kniffin. 7/11/2003. OMIM, Online Mendelian Inheritance in Man: An online database of Human Genes and Genetic Disorders, Johns Hopkins University School of Medicine
BEST (Biomarkers, EndpointS, and other Tools) Resource [Internet].
Biomarker Qualification Program