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PLA2G6-associated neurodegeneration(PLAN)

MedGen UID:
831067
Concept ID:
CN204472
Disease or Syndrome
Synonyms: phospholipase A2-associated neurodegeneration; PLAN
 
Related gene: PLA2G6
 
Monarch Initiative: MONDO:0017998
Orphanet: ORPHA329303

Authors:

Additional description

From OMIM
Neurodegeneration with brain iron accumulation-2A (NBIA2A) is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).  http://www.omim.org/entry/256600

Professional guidelines

PubMed

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
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP
Mov Disord 2022 Jan;37(1):148-161. Epub 2021 Oct 8 doi: 10.1002/mds.28807. PMID: 34622992
Wilson JL, Gregory A, Kurian MA, Bushlin I, Mochel F, Emrick L, Adang L; BPAN Guideline Contributing Author Group, Hogarth P, Hayflick SJ
Dev Med Child Neurol 2021 Dec;63(12):1402-1409. Epub 2021 Aug 4 doi: 10.1111/dmcn.14980. PMID: 34347296

Recent clinical studies

Etiology

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
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
Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK
Parkinsonism Relat Disord 2022 Aug;101:66-74. Epub 2022 Jun 30 doi: 10.1016/j.parkreldis.2022.06.016. PMID: 35803092
Vithayathil J, Adang L, Alves CAPF
Neuropediatrics 2021 Dec;52(6):509-510. Epub 2021 Jul 13 doi: 10.1055/s-0041-1731804. PMID: 34256386
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

Diagnosis

Kurtovic-Kozaric A, Singer-Berk M, Wood J, Evangelista E, Panwala L, Hope A, Heinrich SM, Baxter S, Kiel MJ
Orphanet J Rare Dis 2024 Oct 18;19(1):388. doi: 10.1186/s13023-024-03275-x. PMID: 39425167Free PMC Article
Wilson JL, Gregory A, Kurian MA, Bushlin I, Mochel F, Emrick L, Adang L; BPAN Guideline Contributing Author Group, Hogarth P, Hayflick SJ
Dev Med Child Neurol 2021 Dec;63(12):1402-1409. Epub 2021 Aug 4 doi: 10.1111/dmcn.14980. PMID: 34347296
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
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
Blake RB, Gilbert DL, Schapiro MB
Neurology 2016 Jul 5;87(1):e1-3. doi: 10.1212/WNL.0000000000002804. PMID: 27378808Free PMC Article

Therapy

Chu YT, Lin HY, Chen PL, Lin CH
BMC Neurol 2020 Mar 17;20(1):101. doi: 10.1186/s12883-020-01684-6. PMID: 32183746Free PMC Article
Huang MH, Chiu YC, Tsai CF
Clin Neuropharmacol 2018 Jul/Aug;41(4):136-137. doi: 10.1097/WNF.0000000000000284. PMID: 29916839

Prognosis

Wydrych A, Pakuła B, Janikiewicz J, Dobosz AM, Jakubek-Olszewska P, Skowrońska M, Kurkowska-Jastrzębska I, Cwyl M, Popielarz M, Pinton P, Zavan B, Dobrzyń A, Lebiedzińska-Arciszewska M, Więckowski MR
Biochim Biophys Acta Bioenerg 2025 Jan 1;1866(1):149517. Epub 2024 Oct 2 doi: 10.1016/j.bbabio.2024.149517. PMID: 39366438
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
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B
Parkinsonism Relat Disord 2019 Apr;61:179-186. Epub 2018 Oct 13 doi: 10.1016/j.parkreldis.2018.10.013. PMID: 30340910
Blake RB, Gilbert DL, Schapiro MB
Neurology 2016 Jul 5;87(1):e1-3. doi: 10.1212/WNL.0000000000002804. PMID: 27378808Free PMC Article

Clinical prediction guides

Holla VV, Samim MM, Kumari R, Dhar D, Phulpagar P, Sriram N, Prasad S, Saini J, Kamble N, Yadav R, Muthusamy B, Pal PK
Tremor Other Hyperkinet Mov (N Y) 2024;14:41. Epub 2024 Aug 21 doi: 10.5334/tohm.897. PMID: 39184971Free PMC Article
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
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B
Parkinsonism Relat Disord 2019 Apr;61:179-186. Epub 2018 Oct 13 doi: 10.1016/j.parkreldis.2018.10.013. PMID: 30340910
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

Recent systematic reviews

Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP
Mov Disord 2022 Jan;37(1):148-161. Epub 2021 Oct 8 doi: 10.1002/mds.28807. PMID: 34622992

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