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White matter globoid cells

MedGen UID:
1052771
Concept ID:
CN378038
Finding
HPO: HP:6000892

Definition

Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:689-96. PMID: 27491217
Xu C, Sakai N, Taniike M, Inui K, Ozono K
J Hum Genet 2006;51(6):548-554. Epub 2006 Apr 11 doi: 10.1007/s10038-006-0396-3. PMID: 16607461

Recent clinical studies

Etiology

Langan TJ, Barcykowski AL, Dare J, Pannullo EC, Muscarella L, Carter RL
J Neurosci Res 2016 Nov;94(11):1189-94. doi: 10.1002/jnr.23787. PMID: 27638603Free PMC Article
Abdelhalim AN, Alberico RA, Barczykowski AL, Duffner PK
Pediatr Neurol 2014 Feb;50(2):127-34. Epub 2013 Oct 11 doi: 10.1016/j.pediatrneurol.2013.10.001. PMID: 24262341
Szymańska K, Ługowska A, Laure-Kamionowska M, Bekiesińska-Figatowska M, Gieruszczak-Białek D, Musielak M, Eichler S, Giese AK, Rolfs A
Folia Neuropathol 2012;50(4):346-56. doi: 10.5114/fn.2012.32364. PMID: 23319190
Kohlschütter A, Eichler F
Expert Rev Neurother 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. PMID: 21955203
Provenzale JM, Escolar M, Kurtzberg J
Ann N Y Acad Sci 2005 Dec;1064:220-9. doi: 10.1196/annals.1340.040. PMID: 16394159

Diagnosis

Jaiswani AK, Kulkarni V, Paliwal A
Leg Med (Tokyo) 2023 Feb;60:102155. Epub 2022 Oct 17 doi: 10.1016/j.legalmed.2022.102155. PMID: 36272395
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
Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T
PLoS Genet 2019 Oct;15(10):e1008411. Epub 2019 Oct 4 doi: 10.1371/journal.pgen.1008411. PMID: 31584937Free PMC Article
Kohlschütter A, Eichler F
Expert Rev Neurother 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. PMID: 21955203
Köhler W
Curr Opin Neurol 2010 Jun;23(3):234-41. doi: 10.1097/WCO.0b013e328338313a. PMID: 20216214

Therapy

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:689-96. PMID: 27491217

Prognosis

Kohlschütter A, Eichler F
Expert Rev Neurother 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. PMID: 21955203
Suzuki K
J Child Neurol 2003 Sep;18(9):595-603. doi: 10.1177/08830738030180090201. PMID: 14572137
Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
Mol Genet Metab 2000 May;70(1):1-9. doi: 10.1006/mgme.2000.2990. PMID: 10833326
Wenger DA, Rafi MA, Luzi P
Hum Mutat 1997;10(4):268-79. doi: 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID: 9338580
Suzuki K, Suzuki K
Neurochem Pathol 1985 Spring;3(1):53-68. doi: 10.1007/BF02834075. PMID: 3895053

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
Cachón-González MB, Wang S, Cox TM
Hum Mol Genet 2021 Nov 1;30(22):2082-2099. doi: 10.1093/hmg/ddab159. PMID: 34172992Free PMC Article
Potter GB, Petryniak MA
J Neurosci Res 2016 Nov;94(11):1341-8. doi: 10.1002/jnr.23804. PMID: 27638616Free PMC Article
Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E
Mol Genet Metab 2000 May;70(1):1-9. doi: 10.1006/mgme.2000.2990. PMID: 10833326
Wenger DA, Rafi MA, Luzi P
Hum Mutat 1997;10(4):268-79. doi: 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D. PMID: 9338580

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