Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations
Iranian Journal of Child Neurology,
Vol. 16 No. 3 (2022),
Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms, including hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia, before the age of three. Various reports evaluated the relationship with the incidence of INAD and different mutations in the PLA2G6 gene. We describe cases of two children with INAD whose diagnoses were challenging due to misleading findings and had a mutation in the position C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864 which has been reported previously.
- Group VI Phospholipases A2
- Neurodegenerative Diseases
- Muscle Hypotonia
How to Cite
Gebril O, Uebe S, Reuter M, Schumacher J, Jamra RA, Reis A. A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD. Egyptian Pediatric Association Gazette. 2016;64(4):171-6.
Guo Y-P, Tang B-S, Guo J-F. PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. Front Neurol. 2018; 9:1100.
Li H, Zou Y, Bao X, Wang H, Wang J, Jin H, et al. Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. Exp Ther Med. 2016;12(5):3387-9.
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F and Fusco C: Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. Brain Dev 39: 93-100, 2017.
Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, et al. Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration. European journal of neurology. 2013;20(2):322-30.
Frattini D, Nardocci N, Pascarella R, Panteghini C, Garavaglia B, Fusco C. Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report. Brain & development. 2015; 37(2):270-2.
Babin PL, Rao SNR, Chacko A, Alvina FB, Panwala A, Panwala L, et al. Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. Front Genet. 2018; 9:597.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G. PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron. Nature genetics. 2006 Jul;38(7):752-4.
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, et al. Neurodegeneration associated with genetic defects in phospholipase A (2). Neurology. 2008;71(18):1402-9.
Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010;5(9):e12897-e.
Sina F, Shojaee S, Elahi E, Paisan-Ruiz C. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. European journal of neurology. 2009; 16(1):101-4.
Karkheiran S, Shahidi GA, and Walker RH, et al. PLA2G6-associated dystonia–parkinsonism: Case report and literature review. Tremor Other Hyperkinet Mov 2015; 5.
Rohani M, Shahidi G, Vali F, Lang AE, Slow E, Gahl WA, et al. Oculogyric crises in PLA2G6 associated neurodegeneration. Parkinsonism Relat Disord. 2018 Jul; 52:111-112.
Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiology of aging. 2012 Apr 1;33(4):814-23.
Aicardi J and Castelein P: Infantile neuroaxonal dystrophy. Brain 102: 727-748, 1979.
Brief report: systematic review of Rett syndrome in males. Reichow B, George-Puskar A, Lutz T, Smith IC, Volkmar FR. J Autism Dev Disord. 2015; 45:3377–3383.
Kulkarni SD, Meenal G, Rafat S and Patil VA: Two unusual cases of PLA2G6-associated neurodegeneration from India. Ann Indian Acad Neurol 19: 115-118, 2016.
BAOTIAN WANG, DE WU and JIULAI TANG. Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. EXPERIMENTAL AND THERAPEUTIC MEDICINE 16: 1290-1294, 20181290.
Farina L, Nardocci N, Bruzzone MG, D’Incerti L, Zorzi G, Verga L, et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology 1999; 41:376-80.
Solomons J, Ridgway O, Hardy C, Kurian MA, Kurian M, Jayawant S, et al. Infantile neuroaxonal dystrophy caused by uniparental disomy. Dev Med Child Neurol 2014; 56:386-9.
Mascalchi M, Mari F, Berti B, Bartolini E, Lenge M, Bianchi A, et al. Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy. Cerebellum (London, England). 2017;16(3):742-5.
- Abstract Viewed: 162 times
- pdf Downloaded: 0 times