References
- 1Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain. 2017 May;140(5):1204–11. DOI: 10.1093/brain/awx045
- 2Lynch DS, Wade C, Paiva ARB de, John N, Kinsella JA, Merwick Á, et al. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry. 2019 May;90(5):543–54. DOI: 10.1136/jnnp-2018-319481
- 3Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 May;34(5):598–613. DOI: 10.1002/mds.27568
- 4Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, et al. A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. Neurogenetics. 2025 Mar;26(1):35. DOI: 10.1007/s10048-025-00814-x
- 5Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, et al. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology. 2006 Sep;67(5):859–63. DOI: 10.1212/01.wnl.0000234129.97727.4d
- 6Black DN, Taber KH, Hurley RA. Metachromatic leukodystrophy: a model for the study of psychosis. J Neuropsychiatry Clin Neurosci. 2003;15(3):289–93. DOI: 10.1176/jnp.15.3.289
- 7Malaquias MJ, Costa D, Pinto E, Videira G, Oliveira J, Freixo JP, et al. Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria. Vol. 86, Parkinsonism & related disorders. England; 2021. pp. 45–7. DOI: 10.1016/j.parkreldis.2021.03.025
- 8van der Veldt N, van Rappard DF, van de Pol LA, van der Knaap MS, van Ouwerkerk WJR, Becher JG, et al. Intrathecal baclofen in metachromatic leukodystrophy. Vol. 61, Developmental medicine and child neurology. England; 2019. pp. 232–5. DOI: 10.1111/dmcn.13919
- 9Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021 Mar;372:n71. DOI: 10.1136/bmj.n71
- 10Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, et al. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. Neurology. 2015 Apr;84(17):1760–6. DOI: 10.1212/WNL.0000000000001521
- 11van Rappard DF, Boelens JJ, Wolf NI. Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):261–73. DOI: 10.1016/j.beem.2014.10.001
- 12Hess B, Saftig P, Hartmann D, Coenen R, Lüllmann-Rauch R, Goebel HH, et al. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA. 1996 Dec;93(25):14821–6. DOI: 10.1073/pnas.93.25.14821
- 13Walterfang M, Bonnot O, Mocellin R, Velakoulis D. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis. 2013 Jul;36(4):687–702. DOI: 10.1007/s10545-013-9618-y
- 14Kozian R, Sieber N, Thiergart S. Frontotemporal dementia in metachromatic leukodystrophy. Fortschr Neurol Psychiatr. 2007 Sep;75(9):549–51. DOI: 10.1055/s-2007-980065
- 15Barth ML, Ward C, Harris A, Saad A, Fensom A. Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. J Med Genet. 1994 Sep;31(9):667–71. DOI: 10.1136/jmg.31.9.667
- 16Conzelmann E, Sandhoff K. Biochemical basis of late-onset neurolipidoses. Dev Neurosci. 1991;13(4–5):197–204. DOI: 10.1159/000112160
- 17Gieselmann V, Krägeloh-Mann I. Metachromatic leukodystrophy–an update. Neuropediatrics. 2010 Feb;41(1):1–6. DOI: 10.1055/s-0030-1253412
- 18Baumann N, Turpin JC, Lefevre M, Colsch B. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? J Physiol Paris. 2002;96(3–4):301–6. DOI: 10.1016/S0928-4257(02)00019-0
- 19Tylki-Szymanska A, Berger J, Löschl B, Lugowska A, Molzer B. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. Clin Genet. 1996 Nov;50(5):287–92. DOI: 10.1111/j.1399-0004.1996.tb02376.x
- 20Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum Genet. 2002 Apr;110(4):351–5. DOI: 10.1007/s00439-002-0701-y
- 21Fluharty AL, Fluharty CB, Bohne W, von Figura K, Gieselmann V. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am J Hum Genet. 1991 Dec;49(6):1340–50.
- 22Horgan C, Watts K, Ram D, Rust S, Hutton R, Jones S, et al. A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead. JIMD Rep. 2023 Sep;64(5):346–52. DOI: 10.1002/jmd2.12378
- 23Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004 Nov;13(22):2803–11. DOI: 10.1093/hmg/ddh300
- 24Steenweg ME, Jakobs C, Errami A, van Dooren SJM, Adeva Bartolomé MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010 Apr;31(4):380–90. DOI: 10.1002/humu.21197
- 25Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016/11/26. 2016.11(1):159. DOI: 10.1186/s13023-016-0543-7
- 26Balaji P, Viswanathan V, Chellathurai A, Panigrahi D. An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria. Vol. 17, Annals of Indian Academy of Neurology. India; 2014. pp. 97–9. DOI: 10.4103/0972-2327.128565
- 27Bozaci AE, Er E, Ünal AT, Taş İ, Ayaz E, Ozbek MN, et al. Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Mol Genet Metab reports. 2023 Sep;36:100979. DOI: 10.1016/j.ymgmr.2023.100979
- 28Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW. Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data. AJNR Am J Neuroradiol. 2012 May;33(5):940–3. DOI: 10.3174/ajnr.A2869
