[1]
Barkovich AJ, Messing A. Alexander disease: not just a leukodystrophy anymore. Neurology. 2006 Feb 28:66(4):468-9
[PubMed PMID: 16505295]
[2]
Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Srivastava S, Waldman A, Naidu S. Alexander Disease. GeneReviews(®). 1993:():
[PubMed PMID: 20301351]
[3]
Tsuji M, Tanaka M, Tanaka Y, Ikeda A, Tsuyusaki Y, Goto T, Iai M. Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years. Neuropediatrics. 2020 Aug:51(4):298-301. doi: 10.1055/s-0040-1705172. Epub 2020 Mar 6
[PubMed PMID: 32143223]
[4]
Paprocka J, Rzepka-Migut B, Rzepka N, Jezela-Stanek A, Morava E. Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia. Balkan journal of medical genetics : BJMG. 2019 Dec:22(2):77-82. doi: 10.2478/bjmg-2019-0017. Epub 2019 Dec 21
[PubMed PMID: 31942421]
[5]
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Propensity for paternal inheritance of de novo mutations in Alexander disease. Human genetics. 2006 Mar:119(1-2):137-44
[PubMed PMID: 16365765]
[6]
Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nature genetics. 2001 Jan:27(1):117-20
[PubMed PMID: 11138011]
[7]
Eng LF, Ghirnikar RS, Lee YL. Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). Neurochemical research. 2000 Oct:25(9-10):1439-51
[PubMed PMID: 11059815]
[8]
Nielsen AL, Jørgensen P, Jørgensen AL. Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. Journal of neurogenetics. 2002 Jul-Sep:16(3):175-9
[PubMed PMID: 12696672]
[9]
Messing A, Brenner M. GFAP at 50. ASN neuro. 2020 Jan-Dec:12():1759091420949680. doi: 10.1177/1759091420949680. Epub
[PubMed PMID: 32811163]
[10]
Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M, Alexander Disease Study Group in Japan. Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. Journal of neurology. 2011 Nov:258(11):1998-2008. doi: 10.1007/s00415-011-6056-3. Epub 2011 May 1
[PubMed PMID: 21533827]
[11]
Hagemann TL, Powers B, Mazur C, Kim A, Wheeler S, Hung G, Swayze E, Messing A. Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. Annals of neurology. 2018 Jan:83(1):27-39. doi: 10.1002/ana.25118. Epub 2018 Jan 14
[PubMed PMID: 29226998]
[12]
Messing A. Refining the concept of GFAP toxicity in Alexander disease. Journal of neurodevelopmental disorders. 2019 Dec 16:11(1):27. doi: 10.1186/s11689-019-9290-0. Epub 2019 Dec 16
[PubMed PMID: 31838996]
[13]
Mahavadi AK, Temmins C, Patel MR, Singh H. Supratentorial intraventricular rosette-forming glioneuronal tumors - Case report and review of treatment paradigms. Surgical neurology international. 2020:11():138. doi: 10.25259/SNI_188_2019. Epub 2020 Jun 6
[PubMed PMID: 32547825]
Level 3 (low-level) evidence
[14]
Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. Journal of child neurology. 2003 Sep:18(9):625-32
[PubMed PMID: 14572141]
[15]
Springer S, Erlewein R, Naegele T, Becker I, Auer D, Grodd W, Krägeloh-Mann I. Alexander disease--classification revisited and isolation of a neonatal form. Neuropediatrics. 2000 Apr:31(2):86-92
[PubMed PMID: 10832583]
[16]
Bassuk AG, Joshi A, Burton BK, Larsen MB, Burrowes DM, Stack C. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology. 2003 Oct 14:61(7):1014-5
[PubMed PMID: 14557587]
[17]
Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain : a journal of neurology. 2008 Sep:131(Pt 9):2321-31. doi: 10.1093/brain/awn178. Epub 2008 Aug 6
[PubMed PMID: 18684770]
Level 3 (low-level) evidence
[18]
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011 Sep 27:77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14
[PubMed PMID: 21917775]
[19]
van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM. Alexander disease: diagnosis with MR imaging. AJNR. American journal of neuroradiology. 2001 Mar:22(3):541-52
[PubMed PMID: 11237983]
[20]
Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M. Can MR imaging diagnose adult-onset Alexander disease? AJNR. American journal of neuroradiology. 2008 Jun:29(6):1190-6. doi: 10.3174/ajnr.A1060. Epub 2008 Apr 3
[PubMed PMID: 18388212]
[21]
Brockmann K, Dechent P, Meins M, Haupt M, Sperner J, Stephani U, Frahm J, Hanefeld F. Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. Journal of neurology. 2003 Mar:250(3):300-6
[PubMed PMID: 12638020]
[22]
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A, Global Leukodystrophy Initiative (GLIA) Consortium. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular genetics and metabolism. 2017 Sep:122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20
[PubMed PMID: 28863857]
Level 3 (low-level) evidence
[23]
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009 Feb 24:72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8. Epub
[PubMed PMID: 19237705]