An early-onset case of adult-onset autosomal dominant leukodystrophy

Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, Cortelli P (2016) A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: clinical, autonomic and neuropsychological findings. Auton Neurosci 195:20–26. https://doi.org/10.1016/j.autneu.2016.02.005

Article  PubMed  Google Scholar 

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A (2009) A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. J Neurol Neurosurg Psychiatry 80:237–240. https://doi.org/10.1136/jnnp.2008.147330

Article  CAS  PubMed  Google Scholar 

Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R (2015) LMNB1-related autosomal-dominant leukodystrophy: clinical and radiological course. Ann Neurol 78:412–425. https://doi.org/10.1002/ana.24452

Article  CAS  PubMed  PubMed Central  Google Scholar 

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 (2013) Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat 34:1160–1171. https://doi.org/10.1002/humu.22348

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eriguchi M, Suetsugi N, Yoshikawa M, Ide T, Ikeda M, Suzuyama K, Ikeuchi K, Hara H (2022) Clinical investigation of a family of Lamin B1-related adult-onset autosomal dominant leukodystrophy. Clin Neurol 62:208

Google Scholar 

留言 (0)

沒有登入
gif