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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

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.
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
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
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
A systematic analysis of genotype-phenotype associations with PLA2G6.
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

The role of the PLA2G6 gene in neurodegenerative diseases.
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
Neurodegeneration with brain iron accumulation.
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
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
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
Axonal dystrophies.
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Neurodegeneration with brain iron accumulation.
McNeill A, Chinnery PF
Handb Clin Neurol 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. PMID: 21496576

Diagnosis

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.
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
Neurodegeneration with brain iron accumulation.
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
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
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
Axonal dystrophies.
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Neurodegeneration with brain iron accumulation.
McNeill A, Chinnery PF
Handb Clin Neurol 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. PMID: 21496576

Therapy

Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.
Kanda PA, Kanda RG, Mei PA, Cury IJ
Neurodiagn J 2015 Dec;55(4):235-42. doi: 10.1080/21646821.2015.1092779. PMID: 26793900
Electrophysiological assessment of the effect of intrathecal baclofen in spastic children.
Dachy B, Dan B
Clin Neurophysiol 2002 Mar;113(3):336-40. doi: 10.1016/s1388-2457(02)00010-x. PMID: 11897533
Insulin-like growth factor I reverses experimental diabetic autonomic neuropathy.
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
Stroke-like syndrome, mineralizing microangiopathy, and neuroaxonal dystrophy following intrathecal methotrexate therapy.
Phanthumchinda K, Intragumtornchai T, Kasantikul V
Neurology 1991 Nov;41(11):1847-8. doi: 10.1212/wnl.41.11.1847. PMID: 1944923
Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies.
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

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.
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
A systematic analysis of genotype-phenotype associations with PLA2G6.
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
Axonal dystrophies.
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
Gordon N
Eur J Paediatr Neurol 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606. PMID: 12374576
Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.
Rees H, Ang LC, Casey R, George DH
Pediatr Neurosurg 1995;22(6):321-7. doi: 10.1159/000120923. PMID: 7577667

Clinical prediction guides

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.
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
A systematic analysis of genotype-phenotype associations with PLA2G6.
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
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
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
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.
Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I
Eur J Paediatr Neurol 2018 Sep;22(5):854-861. Epub 2018 May 22 doi: 10.1016/j.ejpn.2018.05.005. PMID: 29859652
Neurodegeneration with brain iron accumulation.
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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