The respiratory neuromuscular system in Pompe disease

Respiratory Physiology & Neurobiology - Tập 189 Số 2 - Trang 241-249 - 2013
David D. Fuller1, Mai K. ElMallah2, Barbara K. Smith1, Manuela Corti3, Lee Ann Lawson3, Darin J. Falk3,4, Barry J. Byrne3,4
1Department of Physical Therapy and McKnight Brain Institute, University of Florida, Gainesville, FL 32610, United States
2Department of Pediatrics, Division of Pulmonary Medicine, University of Florida, Gainesville, FL 32610, United States
3Department of Pediatrics, Child Health Research Institute, University of Florida, Gainesville, FL 32610, United States
4Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, United States

Tóm tắt

Từ khóa


Tài liệu tham khảo

Amalfitano, 2001, Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial, Genetics in Medicine: Official Journal of the American College of Medical Genetics, 3, 132

Bailey, 2004, Coordination of intrinsic and extrinsic tongue muscles during spontaneous breathing in the rat, Journal of Applied Physiology, 96, 440, 10.1152/japplphysiol.00733.2003

Baudhuin, 1964, An electron microscopic and biochemical study of type Ii glycogenosis, Laboratory Investigation, 13, 1139

Beck, 2009, Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease, Therapeutics and Clinical Risk Management, 5, 767, 10.2147/TCRM.S5776

Beck, 2010, Therapy for lysosomal storage disorders, IUBMB Life, 62, 33, 10.1002/iub.284

Bellettato, 2010, Pathophysiology of neuropathic lysosomal storage disorders, Journal of Inherited Metabolic Disease, 33, 347, 10.1007/s10545-010-9075-9

Bijvoet, 1999, Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II, Human Molecular Genetics, 8, 2145, 10.1093/hmg/8.12.2145

Burghaus, 2006, Glycogenesis type II (M. Pompe). Selective failure of the respiratory musculature – a rare first symptom, Der Nervenarzt, 77

Burrow, 2010, Acute progression of neuromuscular findings in infantile Pompe disease, Pediatric Neurology, 42, 455, 10.1016/j.pediatrneurol.2010.02.006

Byrne, 2011, Pompe disease gene therapy, Human Molecular Genetics, 20, R61, 10.1093/hmg/ddr174

Byrne, 2011, Pompe disease: design, methodology, and early findings from the Pompe registry, Molecular Genetics and Metabolism, 103, 1, 10.1016/j.ymgme.2011.02.004

Calder, 1989, Regulation of lysosomal glycogen metabolism: studies of the actions of mammalian acid alpha-glucosidases, International Journal of Biochemistry, 21, 569, 10.1016/0020-711X(89)90139-0

Carlier, 2011, Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns, Neuromuscular Disorders: NMD, 21, 791, 10.1016/j.nmd.2011.06.748

Clement, 1950, Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature, Journal of Pediatrics, 36, 11, 10.1016/S0022-3476(50)80174-9

Cori, 1954, Enzymes and glycogen structure in glycogenosis, Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge, 10, 38

de Barsy, 1973, Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase, Birth Defects Original Article Series, 9, 184

DeRuisseau, 2009, Neural deficits contribute to respiratory insufficiency in Pompe disease, Proceedings of the National Academy of Sciences of the United States of America, 106, 9419, 10.1073/pnas.0902534106

Dubrovsky, 2011, Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation, Muscle & Nerve, 44, 897, 10.1002/mus.22202

Elmallah, 2012, Retrograde gene delivery to hypoglossal motoneurons using AAV9, Human Gene Therapy Methods, 23, 148, 10.1089/hgtb.2012.009

Feldman, 2006, Looking for inspiration: new perspectives on respiratory rhythm, Nature Reviews Neuroscience, 7, 232, 10.1038/nrn1871

Feldman, 2003, Breathing: rhythmicity, plasticity, chemosensitivity, Annual Review of Neuroscience, 26, 239, 10.1146/annurev.neuro.26.041002.131103

Fregosi, 1997, Respiratory-related control of extrinsic tongue muscle activity, Respiration Physiology, 110, 295, 10.1016/S0034-5687(97)00095-9

Fuller, 1999, Effect of co-activation of tongue protrudor and retractor muscles on tongue movements and pharyngeal airflow mechanics in the rat, Journal of Physiology, 519, 601, 10.1111/j.1469-7793.1999.0601m.x

Gambetti, 1971, Nervous system in Pompe's disease. Ultrastructure and biochemistry, Journal of Neuropathology and Experimental Neurology, 30, 412, 10.1097/00005072-197107000-00008

Geddes, 1977, The influence of lysosomes on glycogen metabolism, Biochemical Journal, 163, 193, 10.1042/bj1630193

Gestreau, 2005, Activation of XII motoneurons and premotor neurons during various oropharyngeal behaviors, Respiratory Physiology & Neurobiology, 147, 159, 10.1016/j.resp.2005.03.015

Griffin, 1984, Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers, Virchows Archiv B Cell Pathology Including Molecular Pathology, 45, 51, 10.1007/BF02889851

Hagemans, 2005, Disease severity in children and adults with Pompe disease related to age and disease duration, Neurology, 64, 2139, 10.1212/01.WNL.0000165979.46537.56

Haley, 2003, Pompe disease and physical disability, Developmental Medicine and Child Neurology, 45, 618, 10.1111/j.1469-8749.2003.tb00966.x

Hers, 1963, Alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease), Biochemical Journal, 86, 11, 10.1042/bj0860011

Hirschhorn, 1999, Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally common in white populations, Journal of Medical Genetics, 36, 85

Hirschhorn, 2001, Glycogen storage disease type II: acid alpha-glucosidase (acid Maltase) deficiency

Hogan, 1969, Pompe's disease, Neurology, 19, 894, 10.1212/WNL.19.9.894

Horner, 2008, Pathophysiology of obstructive sleep apnea, Journal of Cardiopulmonary Rehabilitation and Prevention, 28, 289, 10.1097/01.HCR.0000336138.71569.a2

Hudgson, 1975, The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study, The Journal of pathology, 116, 139, 10.1002/path.1711160303

Isaacs, 1986, Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures, Journal of Neurology, Neurosurgery & Psychiatry, 49, 1011, 10.1136/jnnp.49.9.1011

Jones, 2011, Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease, Molecular Genetics and Metabolism, 104, 417, 10.1016/j.ymgme.2011.05.006

Jones, 2010, Oropharyngeal dysphagia in infants and children with infantile Pompe disease, Dysphagia, 25, 277, 10.1007/s00455-009-9252-x

Kikuchi, 1998, Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail, The Journal of Clinical Investigation, 101, 827, 10.1172/JCI1722

Kishnani, 2006, Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease, The Journal of Pediatrics, 149, 89, 10.1016/j.jpeds.2006.02.035

Klumperman, 1991, Biosynthesis and transport of lysosomal alpha-glucosidase in the human colon carcinoma cell line Caco-2: secretion from the apical surface, Journal of Cell Science, 100, 339, 10.1242/jcs.100.2.339

Kroos, 2012, Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants, Human Mutation, 33, 1161, 10.1002/humu.22108

Kroos, 2012, The genotype-phenotype correlation in Pompe disease. American journal of medical genetics. Part C, Seminars in Medical Genetics, 160, 59

Lee, 2011, Hypoglossal neuropathology and respiratory activity in Pompe mice, Frontiers in Physiology, 2, 31, 10.3389/fphys.2011.00031

Liu, 2012, Neuroventilatory efficiency and extubation readiness in critically ill patients, Critical Care, 16, R143, 10.1186/cc11451

Maga, 2013, Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in pompe mice, The Journal of Biological Chemistry, 288, 1428, 10.1074/jbc.M112.438663

Mah, 2007, Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors, Molecular Therapy: The Journal of the American Society of Gene Therapy, 15, 501, 10.1038/sj.mt.6300100

Mah, 2010, Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease, Molecular Therapy, 18, 502, 10.1038/mt.2009.305

Mancall, 1965, Pompe's disease (diffuse glycogenosis) with neuronal storage, Journal of Neuropathology & Experimental Neurology, 24, 85, 10.1097/00005072-196501000-00008

Mannarino, 2012, Obstructive sleep apnea syndrome, European Journal of Internal Medicine, 23, 586, 10.1016/j.ejim.2012.05.013

Margolis, 1994, Obstructive sleep apnea syndrome in acid maltase deficiency, Chest, 105, 947, 10.1378/chest.105.3.947

Marsden, 2005, Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study, Genetics in Medicine: Official Journal of the American College of Medical Genetics, 7, 147, 10.1097/01.GIM.0000154301.76619.5C

Martin, 1973, Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle, Acta Neuropathologica, 23, 229, 10.1007/BF00687878

Martini, 2001, Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2, Neurology, 57, 906, 10.1212/WNL.57.5.906

Matsui, 1983, Generalized glycogen storage disease in Japanese quail (Coturnix coturnix japonica), Veterinary Pathology, 20, 312, 10.1177/030098588302000307

Mellies, 2009, Pompe disease: a neuromuscular disease with respiratory muscle involvement, Respiratory Medicine, 103, 477, 10.1016/j.rmed.2008.12.009

Mellies, 2001, Sleep-disordered breathing and respiratory failure in acid maltase deficiency, Neurology, 57, 1290, 10.1212/WNL.57.7.1290

Mellies, 2005, Respiratory failure in Pompe disease: treatment with noninvasive ventilation, Neurology, 64, 1465, 10.1212/01.WNL.0000158682.85052.C0

Milic-Emili, 1975, New tests to assess lung function: occlusion pressure--a simple measure of the respiratory center's output, New England Journal of Medicine, 293, 1029, 10.1056/NEJM197511132932006

Muller, 2009, Language and speech function in children with infantile Pompe disease, Journal of Pediatric Neurology, 7, 147

Musumeci, 2012, Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients, Molecular Genetics and Metabolism, 107, 480, 10.1016/j.ymgme.2012.07.024

Nichols, 2013, Intermittent hypoxia and stem cell implants preserve breathing capacity in a rodent model of amyotrophic lateral sclerosis, American Journal of Respiratory and Critical Care Medicine, 187, 535, 10.1164/rccm.201206-1072OC

Orlikowski, 2011, Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease, Neuromuscular Disorders: NMD, 21, 477, 10.1016/j.nmd.2011.04.001

Pellegrini, 2005, Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease, European Respiratory Journal, 26, 1024, 10.1183/09031936.05.00020005

Prigent, 2012, Supine volume drop and diaphragmatic function in adults with Pompe disease, The European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology, 39, 1545, 10.1183/09031936.00169011

Qiu, 2012, Spinal delivery of AAV5 vector restores enzyme activity and increases ventilation in Pompe mice, Molecular Therapy, 20, 21, 10.1038/mt.2011.214

Raben, 2003, Enzyme replacement therapy in the mouse model of Pompe disease, Molecular Genetics and Metabolism, 80, 159, 10.1016/j.ymgme.2003.08.022

Raben, 2001, Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy, Human Molecular Genetics, 10, 2039, 10.1093/hmg/10.19.2039

Raben, 1998, Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II, The Journal of Biological Chemistry, 273, 19086, 10.1074/jbc.273.30.19086

Raben, 2002, Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease), Current Molecular Medicine, 2, 145, 10.2174/1566524024605789

Remmers, 1978, Pathogenesis of upper airway occlusion during sleep, Journal of Applied Physiology, 44, 931, 10.1152/jappl.1978.44.6.931

Rohrbach, 2010, CRIM-negative infantile Pompe disease: 42-month treatment outcome, Journal of Inherited Metabolic Disease, 33, 751, 10.1007/s10545-010-9209-0

Schneider, 2013, Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months, Wiener medizinische Wochenschrift, 163, 40, 10.1007/s10354-012-0153-5

Sidman, 2008, Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice, Journal of Neuropathology and Experimental Neurology, 67, 803, 10.1097/NEN.0b013e3181815994

Smith, 2013, Phase I/II trial of AAV1–GAA gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes, Human Gene Therapy, 24, 630, 10.1089/hum.2012.250

Teng, 2004, Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings, Chang Gung Medical Journal, 27, 379

Thurberg, 2006, Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease, Laboratory Investigations, 86, 1208, 10.1038/labinvest.3700484

Toscano, 2013, Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review, Journal of Neurology, 260, 951, 10.1007/s00415-012-6636-x

Tsuji, 1987, The precursor of acid alpha-glucosidase is synthesized as a membrane-bound enzyme, Biochemistry International, 15, 945

van Capelle, 2010, Hearing loss in Pompe disease revisited: results from a study of 24 children, Journal of Inherited Metabolic Disease, 33, 597, 10.1007/s10545-010-9144-0

Van den Hout, 2000, Recombinant human alpha-glucosidase from rabbit milk in Pompe patients, Lancet, 356, 397, 10.1016/S0140-6736(00)02533-2

van den Hout, 2003, The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature, Pediatrics, 112, 332, 10.1542/peds.112.2.332

Van den Hout, 2004, Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk, Pediatrics, 113, e448, 10.1542/peds.113.5.e448

van der Ploeg, 2010, A randomized study of alglucosidase alfa in late-onset Pompe's disease, New England Journal of Medicine, 362, 1396, 10.1056/NEJMoa0909859

Willemsen, 1998, Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease, Ned Tijdschr Geneeskd, 142, 1388

Zellweger, 1955, Glycogen disease of skeletal muscle; report of two cases and review of literature, Pediatrics, 5, 715, 10.1542/peds.15.6.715