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Neuroacanthocytosis

MedGen UID:
976451
Concept ID:
CN294033
Disease or Syndrome
Synonyms: neuroacanthocytosis; neuroacanthocytosis syndrome
 
Monarch Initiative: MONDO:0016987
Orphanet: ORPHA263440

Definition

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. [from ORDO]

Professional guidelines

PubMed

Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Edwards TC, Zrinzo L, Limousin P, Foltynie T
Mov Disord 2012 Mar;27(3):357-63. Epub 2011 Oct 13 doi: 10.1002/mds.23967. PMID: 21997283
Wild EJ, Tabrizi SJ
Pract Neurol 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. PMID: 18024776

Recent clinical studies

Etiology

De Franceschi L, Bosman GJ, Mohandas N
Curr Opin Hematol 2014 May;21(3):201-9. doi: 10.1097/MOH.0000000000000035. PMID: 24626044
Pandey S
J Assoc Physicians India 2013 Jul;61(7):471-4, 483. PMID: 24772751
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Walterfang M, Evans A, Looi JC, Jung HH, Danek A, Walker RH, Velakoulis D
Neurosci Biobehav Rev 2011 Apr;35(5):1275-83. Epub 2011 Jan 13 doi: 10.1016/j.neubiorev.2011.01.001. PMID: 21237198
Uc EY, Rodnitzky RL
Semin Pediatr Neurol 2003 Mar;10(1):52-61. doi: 10.1016/s1071-9091(02)00010-4. PMID: 12785748

Diagnosis

Rashid S, Malek N, Krommyda M
Pract Neurol 2024 May 29;24(3):223-225. doi: 10.1136/pn-2023-003981. PMID: 38290845
Termsarasab P
Continuum (Minneap Minn) 2019 Aug;25(4):1001-1035. doi: 10.1212/CON.0000000000000763. PMID: 31356291
Sokolov E, Schneider SA, Bain PG
Pract Neurol 2012 Feb;12(1):40-3. doi: 10.1136/practneurol-2011-000045. PMID: 22258171
Chowdhury F, Saward R, Erber WN
Br J Haematol 2005 Nov;131(3):285. doi: 10.1111/j.1365-2141.2005.05644.x. PMID: 16225646
Uc EY, Rodnitzky RL
Semin Pediatr Neurol 2003 Mar;10(1):52-61. doi: 10.1016/s1071-9091(02)00010-4. PMID: 12785748

Therapy

Termsarasab P
Continuum (Minneap Minn) 2019 Aug;25(4):1001-1035. doi: 10.1212/CON.0000000000000763. PMID: 31356291
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Attoni T, Beato R, Pinto S, Cardoso F
Arq Neuropsiquiatr 2016 Sep;74(9):761-766. doi: 10.1590/0004-282X20160109. PMID: 27706426
Jung HH, Brandner S
Muscle Nerve 2002 Sep;26(3):424-7. doi: 10.1002/mus.10199. PMID: 12210375
Peppard RF, Lu CS, Chu NS, Teal P, Martin WR, Calne DB
Can J Neurol Sci 1990 Aug;17(3):298-301. doi: 10.1017/s0317167100030602. PMID: 2207884

Prognosis

Zhu H, Feng XM, Zhao T, Liu JY
Medicine (Baltimore) 2019 Jan;98(2):e14050. doi: 10.1097/MD.0000000000014050. PMID: 30633203Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A
Neurology 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. PMID: 17210889
Jung HH, Brandner S
Muscle Nerve 2002 Sep;26(3):424-7. doi: 10.1002/mus.10199. PMID: 12210375
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP
Ann Neurol 2001 Dec;50(6):755-64. doi: 10.1002/ana.10035. PMID: 11761473

Clinical prediction guides

Zhu H, Feng XM, Zhao T, Liu JY
Medicine (Baltimore) 2019 Jan;98(2):e14050. doi: 10.1097/MD.0000000000014050. PMID: 30633203Free PMC Article
Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM
JAMA Neurol 2018 Dec 1;75(12):1554-1562. doi: 10.1001/jamaneurol.2018.2166. PMID: 30128557
Neutel D, Miltenberger-Miltenyi G, Silva I, de Carvalho M
Muscle Nerve 2012 Feb;45(2):293-5. doi: 10.1002/mus.22269. PMID: 22246890
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A
Neurology 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. PMID: 17210889
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP
Am J Hum Genet 1997 Oct;61(4):899-908. doi: 10.1086/514876. PMID: 9382101Free PMC Article

Recent systematic reviews

Braun AA, Jung HH
Orphanet J Rare Dis 2024 Aug 25;19(1):312. doi: 10.1186/s13023-024-03309-4. PMID: 39183347Free PMC Article
Wu Y, Xu YY, Gao Y, Li JM, Liu XW, Wang MQ, Deng H, Xiao LL, Ren HB, Xiong BT, Pan W, Zhou XW, Wang W
Neurosurg Rev 2022 Jun;45(3):1861-1871. Epub 2022 Jan 12 doi: 10.1007/s10143-022-01735-1. PMID: 35020105

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