ADLD | Encyclopedia MDPI

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ADLD

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease

Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates and protects nerve fibers and promotes the rapid transmission of nerve impulses.

genetic conditions

References

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum MolGenet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034.Erratum in: Hum Mol Genet. 2017 Oct 1;26(19):3868.
Ferrera D, Canale C, Marotta R, Mazzaro N, Gritti M, Mazzanti M, Capellari S, Cortelli P, Gasparini L. Lamin B1 overexpression increases nuclear rigidity inautosomal dominant leukodystrophy fibroblasts. FASEB J. 2014 Sep;28(9):3906-18.doi: 10.1096/fj.13-247635.
Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R. LMNB1-relatedautosomal-dominant leukodystrophy: Clinical and radiological course. Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452.
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, GuipponiM, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomaldominant adult-onset demyelinating leukodystrophy (ADLD). Hum Mol Genet. 2015 Jun1;24(11):3143-54. doi: 10.1093/hmg/ddv065.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S,Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B,Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G,Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomaldominant leukodystrophy provides insights into duplication mechanisms andallele-specific expression. Hum Mutat. 2013 Aug;34(8):1160-71. doi:10.1002/humu.22348.
Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ,Huang EJ, Ptáček LJ, Fu YH. Lamin B1 mediates cell-autonomous neuropathology in aleukodystrophy mouse model. J Clin Invest. 2013 Jun;123(6):2719-29. doi:10.1172/JCI66737.
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K,Ptácek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23.Feb;39(2):276.
Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y,Estécio MR, Lin K, Chen J, He RR, Gong P, Rigatti LH, Dupree J, Bayır H, KaganVE, Casaccia P, Padiath QS. Defects of Lipid Synthesis Are Linked to theAge-Dependent Demyelination Caused by Lamin B1 Overexpression. J Neurosci. 2015Aug 26;35(34):12002-17. doi: 10.1523/JNEUROSCI.1668-15.2015.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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