Research & Literature

Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency.

Bachelot A, Nicolas C, Bidet M, et al.

Clinical endocrinology 2017; (86(2)):223-228 doi:10.1111/cen.13105.

Novel AARS2 gene mutation producing leukodystrophy: a case report.

Szpisjak L, Zsindely N, Engelhardt JI, et al.

Journal of human genetics 2017; (62(2)):329-333 doi:10.1038/jhg.2016.126.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Lynch DS, Zhang WJ, Lakshmanan R, et al.

JAMA neurology 2016; (73(12)):1433-1439 doi:10.1001/jamaneurol.2016.2229.

Association Between Palliative Care and Patient and Caregiver Outcomes: A Systematic Review and Meta-analysis.

Kavalieratos D, Corbelli J, Zhang D, et al.

JAMA 2016; (316(20)):2104-2114 doi:10.1001/jama.2016.16840.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Lakshmanan R, Adams ME, Lynch DS, et al.

Neurology. Genetics 2017; (3(2)):e135 doi:10.1212/NXG.0000000000000135.

Premature ovarian failure.

Jankowska K

Przeglad menopauzalny = Menopause review 2017; (16(2)):51-56 doi:10.5114/pm.2017.68592.

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Peragallo JH, Keller S, van der Knaap MS, et al.

Ophthalmic genetics 2018; (39(1)):99-102 doi:10.1080/13816810.2017.1350723.

The spectrum of adult-onset heritable white-matter disorders.

Helman G, Venkateswaran S, Vanderver A

Handbook of clinical neurology 2018; (148()):669-692 doi:10.1016/B978-0-444-64076-5.00043-0.

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.

Jaillard S, Tucker EJ, Akloul L, et al.

Journal of human genetics 2018; (63(5)):691-698 doi:10.1038/s10038-018-0433-z.

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

Taglia I, Di Donato I, Bianchi S, et al.

Acta neurologica Scandinavica 2018; (138(4)):278-283 doi:10.1111/ane.12954.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, et al.

American journal of human genetics 2018; (102(6)):1078-1089 doi:10.1016/j.ajhg.2018.04.004.

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Wang D, Yu M, Zhang W, et al.

Journal of neuropathology and experimental neurology 2018; (77(11)):997-1000 doi:10.1093/jnen/nly087.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Sommerville EW, Zhou XL, Oláhová M, et al.

Human molecular genetics 2019; (28(2)):258-268 doi:10.1093/hmg/ddy294.

Premature ovarian insufficiency - hormone replacement therapy and management of long-term consequences.

Machura P, Grymowicz M, Rudnicka E, et al.

Przeglad menopauzalny = Menopause review 2018; (17(3)):135-138 doi:10.5114/pm.2018.78559.

AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.

Tang Y, Qin Q, Xing Y, et al.

Molecular genetics & genomic medicine 2019; (7(4)):e00582 doi:10.1002/mgg3.582.

Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, et al.

American journal of medical genetics. Part A 2019; (179(8)):1556-1564 doi:10.1002/ajmg.a.61188.

Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency.

Zhou Y, Chen B, Li L, et al.

Fertility and sterility 2019; (112(3)):569-576.e2 doi:10.1016/j.fertnstert.2019.05.005.

A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Song C, Peng L, Wang S, Liu Y

Journal of human genetics 2019; (64(10)):979-983 doi:10.1038/s10038-019-0648-7.

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.

Wei C, Qin Q, Chen F, et al.

BMC neurology 2019; (19(1)):203 doi:10.1186/s12883-019-1429-9.

Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.

Kuo ME, Antonellis A, Shakkottai VG

Cerebellum (London, England) 2020; (19(1)):154-160 doi:10.1007/s12311-019-01080-y.

Vanishing white matter disease imaged over 3 years.

Mathew D, Mahomed N

SA journal of radiology 2019; (23(1)):1661 doi:10.4102/sajr.v23i1.1661.

Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.

Fine AS, Nemeth CL, Kaufman ML, Fatemi A

Journal of neurodevelopmental disorders 2019; (11(1)):29 doi:10.1186/s11689-019-9292-y.

Disability in Basic Activities of Daily Living Is Associated With Symptom Burden in Older People With Advanced Cancer or Chronic Obstructive Pulmonary Disease: A Secondary Data Analysis.

Fettes L, Bone AE, Etkind SN, et al.

Journal of pain and symptom management 2021; (61(6)):1205-1214 doi:10.1016/j.jpainsymman.2020.10.012.

ESHRE guideline: female fertility preservation.

, Anderson RA, Amant F, et al.

Human reproduction open 2020; (2020(4)):hoaa052 doi:10.1093/hropen/hoaa052.

Anti-Müllerian Hormone in the Diagnosis and Prediction of Premature Ovarian Insufficiency.

Anderson RA, Nelson SM

Seminars in reproductive medicine 2020; (38(4-05)):263-269 doi:10.1055/s-0040-1722319.

Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).

La Marca A, Mastellari E

Journal of assisted reproduction and genetics 2021; (38(4)):759-777 doi:10.1007/s10815-021-02067-7.

Ovarian Reserve Markers in Premature Ovarian Insufficiency: Within Different Clinical Stages and Different Etiologies.

Jiao X, Meng T, Zhai Y, et al.

Frontiers in endocrinology 2021; (12()):601752 doi:10.3389/fendo.2021.601752.

Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).

Christin-Maitre S, Givony M, Albarel F, et al.

Annales d'endocrinologie 2021; (82(6)):555-571 doi:10.1016/j.ando.2021.09.001.

Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.

Ayrignac X, Carra-Dallière C, Codjia P, et al.

European journal of neurology 2022; (29(1)):329-334 doi:10.1111/ene.15115.

The emerging neurological spectrum of AARS2-associated disorders.

Parra SP, Heckers SH, Wilcox WR, et al.

Parkinsonism & related disorders 2021; (93()):50-54 doi:10.1016/j.parkreldis.2021.10.031.

Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.

Mickeviciute GC, Valiuskyte M, Plattén M, et al.

Journal of internal medicine 2022; (291(3)):269-282 doi:10.1111/joim.13420.

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y, Yu X, Chen B, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(8)):4961-4977 doi:10.1007/s10072-022-06011-0.

Hormone therapy in women with premature ovarian insufficiency: a systematic review and meta-analysis.

Gonçalves CR, Vasconcellos AS, Rodrigues TR, et al.

Reproductive biomedicine online 2022; (44(6)):1143-1157 doi:10.1016/j.rbmo.2022.02.006.

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

Fan Y, Han J, Yang Y, Chen T

BMC neurology 2022; (22(1)):214 doi:10.1186/s12883-022-02720-3.

The Primary Microglial Leukodystrophies: A Review.

Ferrer I

International journal of molecular sciences 2022; (23(11)) doi:10.3390/ijms23116341.

Impact of hormone therapy on the bone density of women with premature ovarian insufficiency: A systematic review.

Costa GPO, Ferreira-Filho ES, Simoes RDS, et al.

Maturitas 2023; (167()):105-112 doi:10.1016/j.maturitas.2022.09.011.

Family building after diagnosis of premature ovarian insufficiency: a cross-sectional survey in 324 women.

Cambray S, Dubreuil S, Tejedor I, et al.

European journal of endocrinology 2023; (188(3)) doi:10.1093/ejendo/lvad018.

Premature ovarian insufficiency and infertility.

Dhanushi Fernando W, Vincent A, Magraith K

Australian journal of general practice 2023; (52(1-2)):32-38 doi:10.31128/AJGP-08-22-6531.

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.

Lu YW, Liang Z, Guo H, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.05.18.540420.

Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report.

Kazakova E, Téllez-Martínez JA, Flores-Lagunes L, et al.

Frontiers in neurology 2023; (14()):878446 doi:10.3389/fneur.2023.878446.

Pearls & Oy-sters: AARS2 Leukodystrophy-Tremor and Tribulations.

Green K, MacIver CL, Ebden S, et al.

Neurology 2024; (102(8)):e209296 doi:10.1212/WNL.0000000000209296.

A Systematic Review of Palliative Care Needs in Young-Onset Dementia.

Dang J, Yong ACW, Fong ZH, et al.

Journal of the American Medical Directors Association 2024; (25(10)):105219 doi:10.1016/j.jamda.2024.105219.

Primary mitochondrial diseases.

Pizzamiglio C, Hanna MG, Pitceathly RDS

Handbook of clinical neurology 2024; (204()):53-76 doi:10.1016/B978-0-323-99209-1.00004-1.

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.

Fernandes J, Moura J, Tarrio J, et al.

Molecular genetics and metabolism reports 2024; (41()):101157 doi:10.1016/j.ymgmr.2024.101157.

Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.

Mao C, Qiu Y, Wang T, et al.

Journal of molecular neuroscience : MN 2025; (75(1)):11 doi:10.1007/s12031-024-02281-9.

Premature ovarian insufficiency: When ovaries retire early.

Sugianto SRS, Webber L, Safdar Husain F, et al.

Annals of the Academy of Medicine, Singapore 2025; (54(3)):178-191 doi:10.47102/annals-acadmedsg.2024227.

AARS2-catalyzed lactylation induces follicle development and premature ovarian insufficiency.

Zhang ZL, Ren ST, Yang WJ, et al.

Cell death discovery 2025; (11(1)):209 doi:10.1038/s41420-025-02501-0.

Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.

Catania A, Marchet S, Einvag K, et al.

Molecular genetics and metabolism 2025; (146(3)):109259 doi:10.1016/j.ymgme.2025.109259.

Expert opinion by the Italian Society of Gynecology of the Third Age (SIGiTE) and the Italian Society of Menopause (SIM) on diagnosis and treatment of premature ovarian insufficiency.

Capozzi A, Ambroggio S, Cagnacci A, et al.

Minerva endocrinology 2026; (51(1)):88-95 doi:10.23736/S2724-6507.25.04422-7.

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.

Zhou J, Ji C, Ma S, et al.

Frontiers in genetics 2026; (17()):1739328 doi:10.3389/fgene.2026.1739328.

Natural History of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): A Retrospective Patient Cohort Study.

Hayer SN, McLaren DG, Nance RM, et al.

Neurology and therapy 2026; (15(3)):1269-1292 doi:10.1007/s40120-026-00916-0.

The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature.

Wade C, de Paiva ARB, Nóbrega PR, et al.

Journal of neurology 2026; (273(7)).

The role of mitochondrial dysfunction and genetics in female infertility and premature ovarian insufficiency.

Kline BL, Compton AG, Frazier AE, et al.

Human reproduction update 2026; doi:10.1093/humupd/dmag022.

Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation-associated progressive leukoencephalopathy.

Sönmez MT, Saçmaci H

Neurogenetics 2026; (27(1)).

Spontaneous conception and successful live birth during hormone replacement therapy in a patient with iatrogenic premature ovarian insufficiency: a case report.

Lee JM, Yang JS, Park JE, et al.

Frontiers in medicine 2026; (13()):1929801 doi:10.3389/fmed.2026.1929801.