Etiology
Senkevich K,
Zorca CE,
Dworkind A,
Rudakou U,
Somerville E,
Yu E,
Ermolaev A,
Nikanorova D,
Ahmad J,
Ruskey JA,
Asayesh F,
Spiegelman D,
Fahn S,
Waters C,
Monchi O,
Dauvilliers Y,
Dupré N,
Greenbaum L,
Hassin-Baer S,
Grenn FP,
Chiang MSR,
Sardi SP,
Vanderperre B,
Blauwendraat C,
Trempe JF,
Fon EA,
Durcan TM,
Alcalay RN,
Gan-Or Z
Brain
2023 May 2;146(5):1859-1872.
doi: 10.1093/brain/awac413.
PMID: 36370000Free PMC Article
Beltran-Quintero ML,
Bascou NA,
Poe MD,
Wenger DA,
Saavedra-Matiz CA,
Nichols MJ,
Escolar ML
Orphanet J Rare Dis
2019 Feb 18;14(1):46.
doi: 10.1186/s13023-019-1018-4.
PMID: 30777126Free PMC Article
Alcalay RN,
Wolf P,
Levy OA,
Kang UJ,
Waters C,
Fahn S,
Ford B,
Kuo SH,
Vanegas N,
Shah H,
Liong C,
Narayan S,
Pauciulo MW,
Nichols WC,
Gan-Or Z,
Rouleau GA,
Chung WK,
Oliva P,
Keutzer J,
Marder K,
Zhang XK
Neurobiol Dis
2018 Apr;112:85-90.
Epub 2018 Feb 2
doi: 10.1016/j.nbd.2018.01.012.
PMID: 29369793Free PMC Article
Shin D,
Feltri ML,
Wrabetz L
J Neurosci
2016 Feb 10;36(6):1858-70.
doi: 10.1523/JNEUROSCI.3095-15.2016.
PMID: 26865610Free PMC Article
Arvidsson J,
Hagberg B,
Månsson JE,
Svennerholm L
Acta Paediatr
1995 Feb;84(2):218-21.
doi: 10.1111/j.1651-2227.1995.tb13616.x.
PMID: 7756815
Diagnosis
Iacono D,
Koga S,
Peng H,
Manavalan A,
Daiker J,
Castanedes-Casey M,
Martin NB,
Herdt AR,
Gelb MH,
Dickson DW,
Lee CW
Neurobiol Dis
2022 Nov;174:105862.
Epub 2022 Sep 14
doi: 10.1016/j.nbd.2022.105862.
PMID: 36113749Free PMC Article
Thompson-Stone R,
Ream MA,
Gelb M,
Matern D,
Orsini JJ,
Levy PA,
Rubin JP,
Wenger DA,
Burton BK,
Escolar ML,
Kurtzberg J
Mol Genet Metab
2021 Sep-Oct;134(1-2):53-59.
Epub 2021 Apr 3
doi: 10.1016/j.ymgme.2021.03.016.
PMID: 33832819
Guenzel AJ,
Turgeon CT,
Nickander KK,
White AL,
Peck DS,
Pino GB,
Studinski AL,
Prasad VK,
Kurtzberg J,
Escolar ML,
Lasio MLD,
Pellegrino JE,
Sakonju A,
Hickey RE,
Shallow NM,
Ream MA,
Orsini JJ,
Gelb MH,
Raymond K,
Gavrilov DK,
Oglesbee D,
Rinaldo P,
Tortorelli S,
Matern D
Genet Med
2020 Jun;22(6):1108-1118.
Epub 2020 Feb 24
doi: 10.1038/s41436-020-0764-y.
PMID: 32089546
Alcalay RN,
Wolf P,
Levy OA,
Kang UJ,
Waters C,
Fahn S,
Ford B,
Kuo SH,
Vanegas N,
Shah H,
Liong C,
Narayan S,
Pauciulo MW,
Nichols WC,
Gan-Or Z,
Rouleau GA,
Chung WK,
Oliva P,
Keutzer J,
Marder K,
Zhang XK
Neurobiol Dis
2018 Apr;112:85-90.
Epub 2018 Feb 2
doi: 10.1016/j.nbd.2018.01.012.
PMID: 29369793Free PMC Article
Shin D,
Feltri ML,
Wrabetz L
J Neurosci
2016 Feb 10;36(6):1858-70.
doi: 10.1523/JNEUROSCI.3095-15.2016.
PMID: 26865610Free PMC Article
Therapy
Senkevich K,
Zorca CE,
Dworkind A,
Rudakou U,
Somerville E,
Yu E,
Ermolaev A,
Nikanorova D,
Ahmad J,
Ruskey JA,
Asayesh F,
Spiegelman D,
Fahn S,
Waters C,
Monchi O,
Dauvilliers Y,
Dupré N,
Greenbaum L,
Hassin-Baer S,
Grenn FP,
Chiang MSR,
Sardi SP,
Vanderperre B,
Blauwendraat C,
Trempe JF,
Fon EA,
Durcan TM,
Alcalay RN,
Gan-Or Z
Brain
2023 May 2;146(5):1859-1872.
doi: 10.1093/brain/awac413.
PMID: 36370000Free PMC Article
Sands SA,
LeVine SM
J Neurosci Res
2016 Nov;94(11):1261-72.
doi: 10.1002/jnr.23791.
PMID: 27638608
Neri M,
Ricca A,
di Girolamo I,
Alcala'-Franco B,
Cavazzin C,
Orlacchio A,
Martino S,
Naldini L,
Gritti A
Stem Cells
2011 Oct;29(10):1559-71.
doi: 10.1002/stem.701.
PMID: 21809420Free PMC Article
Farooqui AA,
Horrocks LA
Neurochem Pathol
1984 Fall;2(3):189-218.
doi: 10.1007/BF02834352.
PMID: 6152665
Prognosis
Thompson-Stone R,
Ream MA,
Gelb M,
Matern D,
Orsini JJ,
Levy PA,
Rubin JP,
Wenger DA,
Burton BK,
Escolar ML,
Kurtzberg J
Mol Genet Metab
2021 Sep-Oct;134(1-2):53-59.
Epub 2021 Apr 3
doi: 10.1016/j.ymgme.2021.03.016.
PMID: 33832819
Sands SA,
LeVine SM
J Neurosci Res
2016 Nov;94(11):1261-72.
doi: 10.1002/jnr.23791.
PMID: 27638608
Shin D,
Feltri ML,
Wrabetz L
J Neurosci
2016 Feb 10;36(6):1858-70.
doi: 10.1523/JNEUROSCI.3095-15.2016.
PMID: 26865610Free PMC Article
Satoh JI,
Tokumoto H,
Kurohara K,
Yukitake M,
Matsui M,
Kuroda Y,
Yamamoto T,
Furuya H,
Shinnoh N,
Kobayashi T,
Kukita Y,
Hayashi K
Neurology
1997 Nov;49(5):1392-9.
doi: 10.1212/wnl.49.5.1392.
PMID: 9371928
Arvidsson J,
Hagberg B,
Månsson JE,
Svennerholm L
Acta Paediatr
1995 Feb;84(2):218-21.
doi: 10.1111/j.1651-2227.1995.tb13616.x.
PMID: 7756815
Clinical prediction guides
Iacono D,
Koga S,
Peng H,
Manavalan A,
Daiker J,
Castanedes-Casey M,
Martin NB,
Herdt AR,
Gelb MH,
Dickson DW,
Lee CW
Neurobiol Dis
2022 Nov;174:105862.
Epub 2022 Sep 14
doi: 10.1016/j.nbd.2022.105862.
PMID: 36113749Free PMC Article
Lieberman R,
Cortes LK,
Gao G,
Park H,
Wang B,
Jones PL,
Hunter RB,
Leonard JP,
Barker RH Jr
PLoS One
2022;17(8):e0271360.
Epub 2022 Aug 3
doi: 10.1371/journal.pone.0271360.
PMID: 35921286Free PMC Article
Belleri M,
Presta M
J Neurosci Res
2016 Nov;94(11):1359-67.
Epub 2016 Apr 1
doi: 10.1002/jnr.23744.
PMID: 27037626
Shin D,
Feltri ML,
Wrabetz L
J Neurosci
2016 Feb 10;36(6):1858-70.
doi: 10.1523/JNEUROSCI.3095-15.2016.
PMID: 26865610Free PMC Article
Eto Y,
Shen JS,
Meng XL,
Ohashi T
J Inherit Metab Dis
2004;27(3):411-5.
doi: 10.1023/B:BOLI.0000031170.69676.68.
PMID: 15190197