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Neuroaxonal dystrophy

MedGen UID:
90924
Concept ID:
C0338473
Disease or Syndrome
Synonyms: Dystrophy, Neuroaxonal; NBIA2A; Neuroaxonal Dystrophies; Neuroaxonal Dystrophy
SNOMED CT: Neuroaxonal dystrophy (230365004)
 
Monarch Initiative: MONDO:0002283

Definition

A finding that refers to the axonal swelling (spheroids) located throughout the central and peripheral nervous system. [from NCI]

Professional guidelines

PubMed

Gong WD, Tao G, Zhao TT, Yang Y, Ji H
Yi Chuan 2023 Jul 20;45(7):617-623. doi: 10.16288/j.yczz.23-034. PMID: 37503585
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR
Orphanet J Rare Dis 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. PMID: 37403138Free PMC Article
Xue J, Ding DX, Xu GY, Wang PZ, Ge YL, Zhang JR, Cheng XY, Wang YM, Jin H, Luo SY, Zheng YH, Chen J, Wang F, Li D, Mao CJ, Li K, Liu CF
Parkinsonism Relat Disord 2023 Jul;112:105477. Epub 2023 Jun 1 doi: 10.1016/j.parkreldis.2023.105477. PMID: 37285793

Recent clinical studies

Etiology

Deng X, Yuan L, Jankovic J, Deng H
Ageing Res Rev 2023 Aug;89:101957. Epub 2023 May 24 doi: 10.1016/j.arr.2023.101957. PMID: 37236368
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ
Nat Genet 2006 Jul;38(7):752-4. Epub 2006 Jun 18 doi: 10.1038/ng1826. PMID: 16783378Free PMC Article

Diagnosis

Gong WD, Tao G, Zhao TT, Yang Y, Ji H
Yi Chuan 2023 Jul 20;45(7):617-623. doi: 10.16288/j.yczz.23-034. PMID: 37503585
Atwal PS, Midei M, Adams D, Fay A, Heerinckx F, Milner P
Orphanet J Rare Dis 2020 Jul 29;15(1):195. doi: 10.1186/s13023-020-01479-5. PMID: 32727524Free PMC Article
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

Therapy

Kanda PA, Kanda RG, Mei PA, Cury IJ
Neurodiagn J 2015 Dec;55(4):235-42. doi: 10.1080/21646821.2015.1092779. PMID: 26793900
Pratini NR, Sweeters N, Vichinsky E, Neufeld JA
Am J Phys Med Rehabil 2013 Aug;92(8):728-33. doi: 10.1097/PHM.0b013e318282d209. PMID: 23370589Free PMC Article
Schmidt RE, Dorsey DA, Beaudet LN, Plurad SB, Parvin CA, Miller MS
Am J Pathol 1999 Nov;155(5):1651-60. doi: 10.1016/S0002-9440(10)65480-6. PMID: 10550321Free PMC Article
Phanthumchinda K, Intragumtornchai T, Kasantikul V
Neurology 1991 Nov;41(11):1847-8. doi: 10.1212/wnl.41.11.1847. PMID: 1944923
Mervaala E, Andermann F, Quesney LF, Krelina M
Neurology 1990 Jan;40(1):53-6. doi: 10.1212/wnl.40.1.53. PMID: 2104965

Prognosis

Gong WD, Tao G, Zhao TT, Yang Y, Ji H
Yi Chuan 2023 Jul 20;45(7):617-623. doi: 10.16288/j.yczz.23-034. PMID: 37503585
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR
Orphanet J Rare Dis 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. PMID: 37403138Free PMC Article
Xue J, Ding DX, Xu GY, Wang PZ, Ge YL, Zhang JR, Cheng XY, Wang YM, Jin H, Luo SY, Zheng YH, Chen J, Wang F, Li D, Mao CJ, Li K, Liu CF
Parkinsonism Relat Disord 2023 Jul;112:105477. Epub 2023 Jun 1 doi: 10.1016/j.parkreldis.2023.105477. PMID: 37285793
Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, Salih MA, Hamad M, Al-Muhaizea M, Hashem M, Alkuraya FS
Orphanet J Rare Dis 2020 May 1;15(1):109. doi: 10.1186/s13023-020-01355-2. PMID: 32357911Free PMC Article
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

Clinical prediction guides

Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR
Orphanet J Rare Dis 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. PMID: 37403138Free PMC Article
Xue J, Ding DX, Xu GY, Wang PZ, Ge YL, Zhang JR, Cheng XY, Wang YM, Jin H, Luo SY, Zheng YH, Chen J, Wang F, Li D, Mao CJ, Li K, Liu CF
Parkinsonism Relat Disord 2023 Jul;112:105477. Epub 2023 Jun 1 doi: 10.1016/j.parkreldis.2023.105477. PMID: 37285793
Atwal PS, Midei M, Adams D, Fay A, Heerinckx F, Milner P
Orphanet J Rare Dis 2020 Jul 29;15(1):195. doi: 10.1186/s13023-020-01479-5. PMID: 32727524Free PMC Article
Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, Salih MA, Hamad M, Al-Muhaizea M, Hashem M, Alkuraya FS
Orphanet J Rare Dis 2020 May 1;15(1):109. doi: 10.1186/s13023-020-01355-2. PMID: 32357911Free PMC Article
Hayflick SJ, Kurian MA, Hogarth P
Handb Clin Neurol 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1. PMID: 29325618Free PMC Article

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