Late onset adrenoleukodystrophy: A review related clinical case report

eNeurologicalSci - Tập 14 - Trang 62-67 - 2019
Santiago Paláu-Hernández1,2, Ildefonso Rodriguez-Leyva1,2, Juan Manuel Shiguetomi-Medina1,3
1Faculty of Medicine, Universidad Autónoma de San Luis Potosí, Mexico
2Service of Neurology of Hospital Central "Dr. Ignacio Morones Prieto" San Luis Potosi, S.L.P., Mexico
3Department of Postgraduate, Faculty of Medicine, Universidad Autónoma de San Luis Potosí, Mexico

Tài liệu tham khảo

Köhler, 2018, Adulthood leukodystrophies, Nat Rev Neurol, 14, 94, 10.1038/nrneurol.2017.175 Liu, 2004, Adrenomyeloneuropathy, a dynamic progressive disorder: brain magnetic resonance imaging of two cases, Neuroradiology, 46, 296, 10.1007/s00234-003-1096-8 Masdeu, 2016 Lisak, 2016 Engelen, 2012, X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management, Orphanet J Rare Dis, 7, 51, 10.1186/1750-1172-7-51 Engelen, 2014, X-Linked adrenoleukodystrophy: pathogenesis and treatment, Curr Neurol Neurosci Rep, 14, 10.1007/s11910-014-0486-0 Renaud, 2016, Adult-onset leukoencephalopathies, Continuum, 22, 559 Engelen, 2014, X-linked adrenoleukodystrophy in women: a cross-sectional cohort study, Brain, 137, 693, 10.1093/brain/awt361 Kemp, 2001, ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations, Hum Mutat, 18, 499, 10.1002/humu.1227 Powers, 2000, Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy, J. Neuropathol. Exp. Neurol., 59, 89, 10.1093/jnen/59.2.89 Kemp, 2016, Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history, Nat Rev Endocrinol, 12, 606, 10.1038/nrendo.2016.90 Daroff, 2016 Moser, 2007, X-linked adrenoleukodystrophy, Nat Clin Pract Neurol, 3, 140, 10.1038/ncpneuro0421 Vanderver, 2016, Genetic leukoencephalopathies in adults, Continuum, 22, 916 Teriitehau, 2007, Subtle brain abnormalities in adrenomyeloneuropathy, J Radiol, 88, 957, 10.1016/S0221-0363(07)89902-1 Musolino, 2015, Brain endothelial dysfunction in cerebral adrenoleukodystrophy, Brain, 138, 3206, 10.1093/brain/awv250 Trompier, 2018 Hudspeth, 2007, Immunopathogenesis of adrenoleukodystrophy: current understanding, J Neuroimmunol, 182, 5, 10.1016/j.jneuroim.2006.10.009 Filippi, 2015 Osborn, 2018 Howard, 2016 Aubourg, 2015, Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open, Brain, 138, 3133, 10.1093/brain/awv271 Peters, 2004, Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999, Blood, 104, 881, 10.1182/blood-2003-10-3402 Loes, 1994, Adrenoleukodystrophy: a scoring method for brain MR observations, Am J Neuroradiol, 15, 1761 Zhovtis Ryerson, 2014, Adult-onset spastic paraparesis: an approach to diagnostic work-up, J Neurol Sci, 346, 43, 10.1016/j.jns.2014.09.015 Cho, 2018, Approach to myelopathy, Continuum (Minneap, Minn), 24, 386 Kramer, 2018, Vascular disorders of the spinal cord, Continuum (Minneap Minn), 24, 407 Waldman, 2018, Leukodystrophies, Continuum (Minneap Minn), 24, 130 Clarke, 2016 Flemming, 2015 Salinas, 2008, Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms, Lancet Neurol., 7, 1127, 10.1016/S1474-4422(08)70258-8 Statland, 2015, Primary lateral sclerosis, Neurol Clin, 33, 749, 10.1016/j.ncl.2015.07.007 Eichler, 2017, Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy, New England J. Med., 377, 1630, 10.1056/NEJMoa1700554 Aubourg, 1993, A two-year trial of oleic and erucic acids (“Lorenzo's oil”) as treatment for adrenomyeloneuropathy, New England J. Med., 329, 745, 10.1056/NEJM199309093291101 Poulos, 1994, Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil, Ann Neurol, 36, 741, 10.1002/ana.410360509 Turk, 2017, Therapeutic strategies in adrenoleukodystrophy, Wiener Medizinische Wochenschrift, 167, 219, 10.1007/s10354-016-0534-2 Moser, 2005, Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil, Arch Neurol, 62, 1073, 10.1001/archneur.62.7.1073 Kemper, 2016, Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation, Genet Med, 19, 121, 10.1038/gim.2016.68 Dubey, 2005, Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening, J Pediatr, 146, 528, 10.1016/j.jpeds.2004.10.067 Shimozawa, 2010, X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan, J Hum Genet, 56, 106, 10.1038/jhg.2010.139