Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy
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The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disease, as devastating as childhood cerebral adrenoleukodystrophy. Allogeneic haematopoietic stem cell transplantation has been demonstrated to provide long-term neurological benefits for boys with the childhood cerebral form, but results in adults are sparse and inconclusive. We analysed data from 14 adult males with adult cerebral adrenoleukodystrophy treated with allogeneic haematopoietic stem cell transplantation on a compassionate basis in four European centres. All presented with cerebral demyelinating lesions and gadolinium enhancement. Median age at diagnosis of adult cerebral adrenoleukodystrophy was 33 years (range 21-48 years). In addition to cerebral inflammation, five patients had established severe motor disability from adrenomyeloneuropathy affecting only the spinal cord and peripheral nerves (Expanded Disability Status Scale score ≥ 6). Eight patients survived (estimated survival 57 ± 13%) with a median follow-up of 65 months (minimum 38 months). Death was directly transplant-/infection-related (n = 3), due to primary disease progression in advanced adult cerebral adrenoleukodystrophy (n = 1), or secondary disease progression (n = 2) after transient multi-organ failure or non-engraftment. Specific complications during stem cell transplantation included deterioration of motor and bladder functions (n = 12) as well as behavioural changes (n = 8). Arrest of progressive cerebral demyelination and prevention of severe loss of neurocognition was achieved in all eight survivors, but deterioration of motor function occurred in the majority (n = 5). Limited motor dysfunction (Expanded Disability Status Scale score < 6) prior to transplantation was associated with significantly improved survival [78 ± 14% (n = 9) versus 20 ± 18%(n = 5); P < 0.05] and maintenance of ambulation (Expanded Disability Status Scale score < 7) post-transplant (78% versus 0%; P = 0.021). In contrast, bilateral involvement of the internal capsule on brain MRI was associated with poorer survival [20 ± 18% (n = 5) versus 78 ± 14% (n = 9); P < 0.05]. This study is the first to support the feasibility, complications and potential long-term neurological benefit of allogeneic haematopoietic stem cell transplantation in adult cerebral adrenoleukodystrophy. Further studies are warranted to attempt to improve outcomes through patient selection and optimization of transplantation protocols.
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The risk of developing cerebral disease is highest in childhood but remains present throughout life.
“The risk of developing cerebral disease is highest in childhood but remains present throughout life.1,29,33-39”
From International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) · cites this paper as [35]
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Rating neurologic impairment in multiple sclerosis: An expanded disability status scale (EDSS)
Kurtzke, J. F. (1983) · Neurology · doi:10.1212/wnl.33.11.1444 · Cited by 15,011 · see citing works
Cerebral Vascular Accidents in Patients over the Age of 60: II. Prognosis
Rankin, J. O. (1957) · Scottish Medical Journal · doi:10.1177/003693305700200504 · Cited by 2,491 · see citing works
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I., Vidaud, M., Abel, U., Dal-Cortivo, L., Caccavelli, L., et al. (2009) · Science · doi:10.1126/science.1171242 · Cited by 1,508 · see citing works
Self-citationReduced Mortality after Allogeneic Hematopoietic-Cell Transplantation
Gooley, T. A., Chien, J. W., Pergam, S. A., Hingorani, S. R., Sorror, M. L., Boeckh, M., Martin, P. J., Sandmaier, B. M., Marr, K. A., Appelbaum, F. R., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1004383 · Cited by 1,491 · see citing works
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
Moser, H. (1997) · Brain · doi:10.1093/brain/120.8.1485 · Cited by 478 · see citing works
Peters, C., Charnas, L. R., Tan, Y., Ziegler, R. S., Shapiro, E. G., DeFor, T., Grewal, S. S., Orchard, P. J., Abel, S. L., Goldman, A. I., et al. (2004) · Blood · doi:10.1182/blood-2003-10-3402 · Cited by 374 · see citing works
Self-citationAubourg, P., Blanche, S., Jambaqué, I., Rocchiccioli, F., Kalifa, G., Naud-Saudreau, C., Rolland, M.-O., Debré, M., Chaussain, J.-L., Griscelli, C., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006283222607 · Cited by 366 · see citing works
Self-citationShapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Self-citationAdrenoleukodystrophy: a scoring method for brain MR observations.
(1994) · PubMed Central · Cited by 321 · see citing works
Peters, C., Steward, C. G., & on behalf of the NMDP, I. (2003) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1703839 · Cited by 312 · see citing works
Socié, G., Schmoor, C., Bethge, W. A., Ottinger, H. D., Stelljes, M., Zander, A. R., Volin, L., Ruutu, T., Heim, D. A., Schwerdtfeger, R., et al. (2011) · Blood · doi:10.1182/blood-2011-01-329821 · Cited by 301 · see citing works
Miller, W. P., Rothman, S. M., Nascene, D., Kivisto, T., DeFor, T. E., Ziegler, R. S., Eisengart, J., Leiser, K., Raymond, G., Lund, T. C., et al. (2011) · Blood · doi:10.1182/blood-2011-01-329235 · Cited by 290 · see citing works
Graft failure in the modern era of allogeneic hematopoietic SCT
Olsson, R. F., Remberger, M., Schaffer, M., Berggren, D. M., Svahn, B.-M., Mattsson, J., & Ringdén, O. T. H. (2012) · Bone Marrow Transplantation · doi:10.1038/bmt.2012.239 · Cited by 284 · see citing works
X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Kemp, S., Berger, J., & Aubourg, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.03.012 · Cited by 283 · see citing works
Self-citationAnalysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
Loes, D. J., Fatemi, A., Melhem, E. R., Gupte, N., Bezman, L., Moser, H. W., & Raymond, G. V. (2003) · Neurology · doi:10.1212/01.wnl.0000079050.91337.83 · Cited by 268 · see citing works
Mahmood, A., Raymond, G. V., Dubey, P., Peters, C., & Moser, H. W. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70177-1 · Cited by 193 · see citing works
Bacigalupo, A., Socié, G., Hamladji, R. M., Aljurf, M. D., Maschan, A., Kyrcz‐Krzemień, S., Cybicka, A., Sengeløv, H., Ünal, A., Beelen, D. W., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.115345 · Cited by 183 · see citing works
Allogeneic stem cell transplantation in paroxysmal nocturnal hemoglobinuria
de Latour, R. P., Schrezenmeier, H., Bacigalupo, A. P., Blaise, D., Souza, C. A. D., Vigouroux, S., Willemze, R., Terriou, L., Tichelli, A., Mohty, M., et al. (2012) · Haematologica · doi:10.3324/haematol.2012.062828 · Cited by 143 · see citing works
Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
The role of microglia in human disease: therapeutic tool or target?
Cartier, N., Lewis, C. B., Zhang, R., & Rossi, F. M. V. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1330-y · Cited by 135 · see citing works
Outcomes of Unrelated Umbilical Cord Blood Transplantation for X-Linked Adrenoleukodystrophy
Beam, D., Poe, M. D., Provenzale, J. M., Szabolcs, P., Martin, P., Prasad, V. K., Parikh, S. H., Driscoll, T., Mukundan, S. V., Kurtzberg, J., et al. (2007) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2007.01.082 · Cited by 98 · see citing works
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy
de Beer, M., Engelen, M., & van Geel, B. M. (2014) · Neurology · doi:10.1212/wnl.0000000000001074 · Cited by 97 · see citing works
Bone marrow-derived macrophages from aged rats are more responsive to inflammatory stimuli
Barrett, J. P., Costello, D. A., O’Sullivan, J., Cowley, T. R., & Lynch, M. A. (2015) · Journal of Neuroinflammation · doi:10.1186/s12974-015-0287-7 · Cited by 76 · see citing works
Unrelated donor stem cell transplantation in adult patients with thalassemia
Nasa, G. L., Caocci, G., Argiolu, F., Giardini, C., Locatelli, F., Vacca, A., Orofino, M. G., Piras, E., Addari, M. C., Ledda, A., et al. (2005) · Bone Marrow Transplantation · doi:10.1038/sj.bmt.1705173 · Cited by 75 · see citing works
The neuropsychiatry of adult-onset adrenoleukodystrophy
Rosebush, P. I., Garside, S., Levinson, A. J., & Mazurek, M. F. (1999) · The Journal of Neuropsychiatry and Clinical Neurosciences · doi:10.1176/jnp.11.3.315 · Cited by 72 · see citing works
Holtick, U., Albrecht, M., Chemnitz, J. M., Theurich, S., Shimabukuro‐Vornhagen, A., Skoetz, N., Scheid, C., & von Bergwelt‐Baildon, M. (2014) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2014.12.007 · Cited by 71 · see citing works
Eichler, F., Mahmood, A., Loes, D. J., Bezman, L., Lin, D., Moser, H. W., & Raymond, G. V. (2007) · Archives of Neurology · doi:10.1001/archneur.64.5.659 · Cited by 60 · see citing works
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy
Baumann, M., Korenke, C., Weddige-Diedrichs, A., Wilichowski, E., Hunneman, D., Wilken, B., Brockmann, K., Klingebiel, T., Niethammer, D., Kühl, J., et al. (2003) · European Journal of Pediatrics · doi:10.1007/s00431-002-1097-3 · Cited by 47 · see citing works
Self-citationMcKinney, A. M., Nascene, D. R., Miller, W. P., Eisengart, J. B., Loes, D. J., Benson, M., Tolar, J., Orchard, P. J., Ziegler, R. S., Zhang, L., et al. (2012) · American Journal of Neuroradiology · doi:10.3174/ajnr.a3232 · Cited by 26 · see citing works
Long‐term effect of bone marrow transplantation in adult‐onset adrenoleukodystrophy
Hitomi, T., Mezaki, T., Tomimoto, H., Ikeda, A., Shimohama, S., Okazaki, T., Uchiyama, T., & Shibasaki, H. (2005) · European Journal of Neurology · doi:10.1111/j.1468-1331.2005.01055.x · Cited by 23 · see citing works
Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy
Nowaczyk, M. G. J. M., Saunders, E. F., Tein, I., Blasér, S., & Clarke, J. T. R. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)80076-5 · Cited by 20 · see citing works
Genotype and Protein Expression After Bone Marrow Transplantation for Adrenoleukodystrophy
Schönberger, S., Roerig, P., Schneider, D. T., Reifenberger, G., Göbel, U., & Gärtner, J. (2007) · Archives of Neurology · doi:10.1001/archneur.64.5.noc60105 · Cited by 19 · see citing works
Abstracts from the Eighteenth Annual Conference of the United Leukodystrophy Foundation
Moser, H. W. (1999) · Journal of Molecular Neuroscience · doi:10.1385/jmn:13:3:247 · Cited by 19 · see citing works
Haematopoietic stem‐cell transplant for adult cerebral adrenoleukodystrophy
Fitzpatrick, A. S., Loughrey, C. M., Johnston, P. I., McKee, S. A., Spence, W., Flynn, P., Jones, F. G. C., & Morrow, J. (2008) · European Journal of Neurology · doi:10.1111/j.1468-1331.2007.02048.x · Cited by 12 · see citing works
New Insights About Hematopoietic Stem Cell Transplantation in Adrenoleukodystrophy
Moser, H. W., & Mahmood, A. (2007) · Archives of Neurology · doi:10.1001/archneur.64.5.631 · Cited by 11 · see citing works
Role for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.
van Geel (2001) · Open Repository and Bibliography (University of Luxembourg) · doi:10.1002/1531-8249(20010201)49:2 · Cited by 7 · see citing works
Bipolar I Disorder Presaging X-Linked Adrenoleukodystrophy
Chee, K., Ong, B.-H., Latif, K. A., & Ngu, L. H. (2013) · Journal of Neuropsychiatry · doi:10.1176/appi.neuropsych.12060142 · Cited by 5 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Ko ¨hler W, Sokolowski P. A new disease-specific scoring system for adult phenotypes of x-linked adrenoleukodystrophy. J Mol Neurosci 1999; 13: 247-52.
- van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adre- noleukodystrophy. Ann Neurol 2001; 49: 186-94.
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201374 · Cited by 156 · see citing works
Self-citationKöhler, W., Curiel, J., & Vanderver, A. L. (2018) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.175 · Cited by 158 · see citing works
Self-citationClinical application of next-generation sequencing to the practice of neurology
Rexach, J. E., Lee, H.-N., Martinez-Agosto, J., Nemeth, A., & Fogel, B. (2019) · Lancet Neurology · doi:10.1016/s1474-4422(19)30033-x · Cited by 101 · see citing works
Advances of Schwann cells in peripheral nerve regeneration: From mechanism to cell therapy
Wei, C., Guo, Y., Ci, Z., Li, M., Zhang, Y., & Zhou, Y. (2024) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2024.116645 · Cited by 106 · see citing works
Shapiro, J., Iancu, O., Jacobi, A. M., McNeill, M., Turk, R., Rettig, G. R., Amit, I., Tovin, A., Zohar Yakhini, B., Behlke, M. A., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.04.027 · Cited by 69 · see citing works
Pizcueta, P. M., Vergara, C., Emanuele, M., Vilalta, A., Rodríguez‐Pascau, L., & Martinell, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043201 · Cited by 55 · see citing works
Page, K. M., Stenger, E. O., Connelly, J. A., Shyr, D. C., West, T., Wood, S. J., Case, L. E., Kester, M., Shim, S., Hammond, L., et al. (2019) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2019.09.003 · Cited by 49 · see citing works
Dulski, J., Heckman, M. G., White, L. J., Żur‐Wyrozumska, K., Lund, T. C., & Wszołek, Z. K. (2022) · Pharmaceutics · doi:10.3390/pharmaceutics14122778 · Cited by 46 · see citing works
Mallack, E. J., Turk, B. R., Yan, H., & Eichler, F. (2019) · Current Treatment Options in Neurology · doi:10.1007/s11940-019-0605-y · Cited by 42 · see citing works
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy
Mallack, E. J., van de Stadt, S. I. W., Caruso, P. A., Musolino, P. L., Sadjadi, R., Engelen, M., & Eichler, F. (2020) · Neurology · doi:10.1212/wnl.0000000000009626 · Cited by 39 · see citing works
Biase, I. D., Tortorelli, S., Kratz, L. E., Steinberg, S. J., Cusmano‐Ozog, K. P., & Braverman, N. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0713-9 · Cited by 33 · see citing works
Waldhüter, N., Köhler, W., Hemmati, P., Jehn, C. F., Peceny, R., Vuong, G. L., Arnold, R., & Kühl, J. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12044 · Cited by 31 · see citing works
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Ma, C. Y., Li, C., Zhou, X., Zhang, Z., Jiang, H., Liu, H., Chen, H. J., Tse, H., Liao, C., & Lian, Q. (2021) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2021.112214 · Cited by 28 · see citing works
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Matsukawa, T., Yamamoto, T., Honda, A., Toya, T., Ishiura, H., Mitsui, J., Tanaka, M., Hao, A., Shinohara, A., Ogura, M., et al. (2020) · Brain Communications · doi:10.1093/braincomms/fcz048 · Cited by 27 · see citing works
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Golse, M., Weinhofer, I., Blanco, B., Barbier, M., Yazbeck, E., Huiban, C., Chaumette, B., Pichon, B., Fatemi, A., Pascual, S., et al. (2024) · Brain · doi:10.1093/brain/awae169 · Cited by 23 · see citing works
Coppa, A., Guha, S., Fourcade, S., Parameswaran, J., Ruiz, M., Moser, A. B., Schlüter, A., Murphy, M. P., Lizcano, J. M., Miranda-Vizuete, A., et al. (2020) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2020.01.177 · Cited by 23 · see citing works
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An update on the diagnosis and treatment of adrenoleukodystrophy
Gujral, J., & Sethuram, S. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000782 · Cited by 17 · see citing works
Beyond gait and balance: Urinary and bowel dysfunction in X-linked adrenoleukodystrophy
Corre, C. S., Grant, N., Sadjadi, R., Hayden, D., Becker, C., Gomery, P., & Eichler, F. S. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01596-1 · Cited by 19 · see citing works
Kato, K., Maemura, R., Wakamatsu, M., Yamamori, A., Hamada, M., Kataoka, S., Narita, A., Miwata, S., Sekiya, Y., Kawashima, N., et al. (2018) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2018.11.001 · Cited by 15 · see citing works
Bessey, A., Chilcott, J. B., Leaviss, J., & Sutton, A. (2018) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0921-4 · Cited by 15 · see citing works
Wadhwa, A., Chen, Y., Holmqvist, A. S., Wu, J., Ness, E., Parman, M. A., Kung, M., Hageman, L., Francisco, L., Braunlin, E., et al. (2018) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2018.09.035 · Cited by 14 · see citing works
Yska, H. A. F., Golse, M., Beerepoot, S., Hayer, S. N., Bergner, C. G., de Paiva, A. R. B., Marelli, C., Palacios, N. J., Llamas-Osorio, Y., Huiban, C., et al. (2025) · Movement Disorders · doi:10.1002/mds.30282 · Cited by 13 · see citing works
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Kornbluh, A. B., Baldwin, A., Fatemi, A. S., Vanderver, A. L., Adang, L. A., van Haren, K. P., Sampson, J. B., Eichler, F., Sadjadi, R., Engelen, M., et al. (2024) · Neurology Genetics · doi:10.1212/nxg.0000000000200192 · Cited by 13 · see citing works
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Pierpont, E. I., Isaia, A., McCoy, E., Brown, S. J., Gupta, A. O., & Eisengart, J. B. (2022) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12581 · Cited by 11 · see citing works
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Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature
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Bergner, C. G., Schäfer, L., Vučinić, V., Schetschorke, B., Lier, J., Scherlach, C., Rullmann, M., Sabri, O., Claßen, J., Platzbecker, U., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1163107 · Cited by 7 · see citing works
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Fadiga, L., Melo, M., Saraiva, J. C., & Paiva, I. (2021) · HORMONES · doi:10.1007/s42000-021-00325-y · Cited by 5 · see citing works
Koto, Y., Hadano, N., & Sakai, N. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03424-2 · Cited by 4 · see citing works
Chen, Y., Zhang, J., Wang, J., & Wang, K. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00271 · Cited by 4 · see citing works
Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
Wanders, R. J. A., Engelen, M., & Vaz, F. M. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_42 · Cited by 4 · see citing works
Morita, M., Kaizawa, T., Yoda, T., Oyama, T., Asakura, R., Matsumoto, S., Nagai, Y., Watanabe, Y., Watanabe, S., Kobayashi, H., et al. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12346 · Cited by 3 · see citing works
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
Dong, S., Xiao, L., Sun, Y., Li, G., Xie, Y., Wang, M., Wang, N., He, J., & Chen, H. (2025) · Clinical Genetics · doi:10.1111/cge.14752 · Cited by 2 · see citing works
Zhang, L., Yu, Y. F., Liu, T., Li, C., Tan, L., & Wen, S. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03499-x · Cited by 2 · see citing works
Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
Mannari, A., Wiggins, B. T., & Bachuwa, G. I. (2020) · Cureus · doi:10.7759/cureus.9813 · Cited by 2 · see citing works
S1-Leitlinie: Leukodystrophien und hereditäre Leukenzephalopathien im Erwachsenenalter
Schöls, L. J. (2023) · DGNeurologie · doi:10.1007/s42451-023-00604-5 · Cited by 2 · see citing works
Shimozawa, N. (2019) · Springer eBooks · doi:10.1007/978-981-15-1169-1_5 · Cited by 2 · see citing works
Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy
Engelen, M. (2017) · New England Journal of Medicine · doi:10.1056/nejme1709253 · Cited by 2 · see citing works
Moscatelli, M. E. M., Benzoni, C., Doniselli, F. M., Verri, M., Pascuzzo, R., Aquino, D., Mazzi, F., Erbetta, A., & Salsano, E. (2023) · European Radiology Experimental · doi:10.1186/s41747-023-00373-6 · Cited by 1 · see citing works
Back Pain, Myelopathy, and Radiculopathy
Tarulli, A. W. (2016) · Springer eBooks · doi:10.1007/978-3-319-29632-6_17 · Cited by 1 · see citing works
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy
Yada, Y., Torio, M., Koga, Y., Yamashita, F., Ichimura, T., Eguchi, K., Ishimura, M., Mushimoto, Y., Hiwatashi, A., Sasazuki, M., et al. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100778 · Cited by 1 · see citing works
Vapljanin, M., Milosavljević, M. N., & Јаnkovic, S. (2024) · Biotechnology & Biotechnological Equipment · doi:10.1080/13102818.2024.2342888 · Cited by 1 · see citing works
Back Pain, Myelopathy, and Radiculopathy
Tarulli, A. W. (2020) · Springer eBooks · doi:10.1007/978-3-030-55598-6_17 · Cited by 1 · see citing works
Chataway, J., Wade, C., Murphy, E., & Lynch, D. S. (2024) · Brain · doi:10.1093/brain/awae261 · Cited by 1 · see citing works
Spastic Paraplegias Due to Non-Traumatic Spinal Cord Disorders
Shimazaki, H. (2018) · InTech eBooks · doi:10.5772/intechopen.71457
de Paiva, A. R. B. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2019.tde-16102019-142301
Paunovic, S., Koehler, W., & Knechtle, B. (2021) · Praxis · doi:10.1024/1661-8157/a003674
Sukhomlinova, M. A. (2022) · Philology Theory & Practice · doi:10.30853/phil20220092
Waldhüter, N., Köhler, W., Hemmati, P., Jehn, C. F., Peceny, R., Vuong, G. L., Arnold, R., & Kühl, J. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-018-0241-9
Self-citationLeukodystrophien des Erwachsenenalters
Köhler, W. (2017) · Springer eBooks · doi:10.1007/978-3-662-44768-0_162-1
Self-citationLeukodystrophien des Erwachsenenalters
Köhler, W. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60676-6_162
Self-citationKöhler, W. (2019) · Elsevier eBooks · doi:10.1016/b978-3-437-21882-8.00010-4
Self-citationMetabolic Treatments of Cerebellar Ataxia
Mochel, F. (2023) · Contemporary clinical neuroscience · doi:10.1007/978-3-031-24345-5_25
Démarche diagnostique devant une leucodystrophie métabolique de l’adulte
Mochel, F. (2024) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2024.01.003
Taheri, F., Goharifar, N., Safari, M., Goharifar, A., Salmaninejad, A., Sarhangi, N., Hasanzad, M., & Amoli, M. M. (2024) · Springer eBooks · doi:10.1007/978-981-97-4974-4_2
Status epilepticus as clinical manifestation of adrenomyeloneuropathy: a rare association
Perillo, S., Allocca, R., Barbato, F., Perillo, T., Bosso, G., Pinto, A. V., & Numis, F. G. (2025) · Journal of Medical Imaging and Interventional Radiology · doi:10.1007/s44326-025-00056-z
Köhler, W. (2022) · Elsevier eBooks · doi:10.1016/b978-3-437-21884-2.00010-6
Self-citationCorre, C. S., Grant, N. R., Sadjadi, R., Hayden, D., Becker, C., Gomery, P., & Eichler, F. (2021) · Figshare · doi:10.6084/m9.figshare.13531577
Corre, C. S., Grant, N. R., Sadjadi, R., Hayden, D., Becker, C., Gomery, P., & Eichler, F. (2021) · Figshare · doi:10.6084/m9.figshare.13531574
National Trends in MRI Screening and Transplant for US Adult Men With X-Linked Adrenoleukodystrophy
Alton, W. Y., & Bonkowsky, J. L. (2026) · Neurology Open Access · doi:10.1212/wn9.0000000000000096
Analysis of Interindividual Lesion Progression Variability in Adult Cerebral Adrenoleukodystrophy
Ponleitner, M., Lier, J., Bracoud, L., Kabak, E. G., Thompson, R. E., McLaughlin, H. G., Delmonte, A., Cajgfinger, T., Schäfer, L., Awissus, C., et al. (2026) · Neurology · doi:10.1212/wnl.0000000000218407
Self-citationRoy, S., & Gharde, P. (2026) · International journal of Nutrition Pharmacology Neurological Diseases · doi:10.4103/ijnpnd.ijnpnd_55_26
Gene therapy in leukodystrophies
Vafadar, A., Heidari, Z., & Savardashtaki, A. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-40467-2.00010-5
Schäfer, L., Deibler, L., Lier, J., Ponleitner, M., Köhler, W., & Bergner, C. G. (2026) · Research Square · doi:10.21203/rs.3.rs-10995299/v1
Self-citation
- Authors
- Kühl, J.-S., Suarez, F., Gillett, G. T., Hemmati, P. G., Snowden, J. A., Stadler, M., Vuong, G. L., Aubourg, P., Köhler, W., & Arnold, R.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- Northern General Hospital (GB)
- Stiftung Charité (DE)
- Royal Hallamshire Hospital (GB)
- Medizinische Hochschule Hannover (DE)
- Inserm (FR)
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-03-25
- Volume
- 140
- Issue
- 4
- Pages
- 953-966
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2599975163
- Cited by
- 78
- References
- 37
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 11 · 2023: 6 · 2022: 9 · 2021: 10 · 2020: 10 · 2019: 8 · 2018: 9 · 2017: 3 · 2016: 1
- FWCI
- 6.07
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- allogeneic hematopoietic stem cell transplantation, long-term outcomes, survival, motor impairment, adrenomyeloneuropathy, brain demyelination, Expanded Disability Status Scale
- MeSH terms
- Adrenoleukodystrophy, Adult, Aftercare, Feasibility Studies, Humans, Male, Middle Aged, Postoperative Complications, Severity of Illness Index, Outcome Assessment, Health Care, Hematopoietic Stem Cell Transplantation, Disease Progression, Young Adult
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