İnfantil Nöroaksonal Distrofi ve Görüntüleme Bulguları

Bhardwaj NK, Gowda VK, Saini J, Sardesai AV, Santhoshkumar R, Mahadevan A. Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India. Brain and Development. 2021;43(10):1013-1022.

Deng X, Yuan L, Jankovic J, Deng H. The role of the PLA2G6 gene in neurodegenerative diseases. Ageing Res Rev. 2023;89:101957.

Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, et al. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet Journal of Rare Diseases. 2023;18(1):177.

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, et al. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. Brain and Development. 2017;39(2):93-100.

Sait H, Srivastava S, Pandey M, Ravichandran D, Shukla A, Mandal K, et al. Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families. neurogenetics. 2023;24(2):113-127.

Zhong Q, Zhong Q, Lai B. Infantile neuroaxonal dystrophy causing iron deposition in the bilateral globus pallidus. QJM: An International Journal of Medicine. 2023:hcad217.

Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, et al. The natural history of infantile neuroaxonal dystrophy. Orphanet Journal of Rare Diseases. 2020;15(1):109.

Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, et al. Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. European Journal of Neurology. 2015;22(1):178-186.

Atwal PS, Midei M, Adams D, Fay A, Heerinckx F, Milner P. The infantile neuroaxonal dystrophy rating scale (INAD-RS). Orphanet Journal of Rare Diseases. 2020;15(1):195.

Hao X, Yang Q, Shen L, Du J. A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant. Neurol Sci. 2022;43(3):2105-2108.

Guo YP, Tang BS, Guo JF. PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. Front Neurol. 2018;9:1100.

Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, et al. Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism. Movement Disorders. 2022;37(1):148-161.

Mehta S, Takkar A, Singh D, Aggarwal A, Lal V. Unusual Presentation of PLA2G6-Related Neurodegeneration with Retinal Vasculitis. Mov Disord Clin Pract. 2022;9(1):113-117.

Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, et al. Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. J Hum Genet. 2019;64(1):61-63.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, et al. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clinical Genetics. 2017;92(5):534-539.

Cheng HL, Chen YJ, Xue YY, Wu ZY, Li HF, Wang N. Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration. Brain Sci. 2022;12(5).

Somesh S, Sarvesh Chandra M, Amrin I, Hira L. Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD). BMJ Case Reports. 2021;14(3):e242586.

Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JTR, Branson HM, et al. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology. 2016;58(10):1035-1042.

Roeben B, Zeltner L, Hagberg GE, Scheffler K, Schöls L, Bender B. Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign". Mov Disord. 2023;38(5):904-906.

Li H, Li D, Yang W, Yan H, Zhao Z, Yang H. Deep Brain Stimulation (DBS) with Subthalamic Nucleus (STN) as Target for Pediatric Patients with PKAN. World Neurosurg. 2022;163:e317-e322.

Chen S, Zhang H, Zhang J, Jiang B, He Z, Zhang B, et al. Motor and non-motor responses of STN DBS in early onset PLA2G6 related Parkinsonism with compound heterozygous mutation from China. Parkinsonism Relat Disord. 2023;106:105237.

Ravat P, Shinde S, Shinde SR, Bangar S, Nayak N, Agarwal PA. Juvenile PLA2G6-Parkinsonism Due to Indian 'Asian' p.R741Q Mutation, and Response to STN DBS. Mov Disord. 2022;37(3):657-658.

Villalón-García I, Álvarez-Córdoba M, Povea-Cabello S, Talaverón-Rey M, Villanueva-Paz M, Luzón-Hidalgo R, et al. Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration. Neurobiol Dis. 2022;165:105649.

Adams D, Midei M, Dastgir J, Flora C, Molinari RJ, Heerinckx F, et al. Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases. JIMD Rep. 2020;54(1):54-60.

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.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, et al. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Lancet Neurol. 2019;18(7):631-642.

Gopurappilly R, Musthafa T, Sukumaran S, Viswanath B, Hasan G. Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). Stem Cell Res. 2023;67:103033.