Case report: ‘AARS2 leukodystrophy’

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Standard

Case report : ‘AARS2 leukodystrophy’. / Axelsen, Tobias Melton; Vammen, Tzvetelina Lubenova; Bak, Mads; Pourhadi, Nelsan; Stenør, Christian Midtgaard; Grønborg, Sabine.

I: Molecular Genetics and Metabolism Reports, Bind 28, 100782, 09.2021.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Axelsen, TM, Vammen, TL, Bak, M, Pourhadi, N, Stenør, CM & Grønborg, S 2021, 'Case report: ‘AARS2 leukodystrophy’', Molecular Genetics and Metabolism Reports, bind 28, 100782. https://doi.org/10.1016/j.ymgmr.2021.100782

APA

Axelsen, T. M., Vammen, T. L., Bak, M., Pourhadi, N., Stenør, C. M., & Grønborg, S. (2021). Case report: ‘AARS2 leukodystrophy’. Molecular Genetics and Metabolism Reports, 28, [100782]. https://doi.org/10.1016/j.ymgmr.2021.100782

Vancouver

Axelsen TM, Vammen TL, Bak M, Pourhadi N, Stenør CM, Grønborg S. Case report: ‘AARS2 leukodystrophy’. Molecular Genetics and Metabolism Reports. 2021 sep.;28. 100782. https://doi.org/10.1016/j.ymgmr.2021.100782

Author

Axelsen, Tobias Melton ; Vammen, Tzvetelina Lubenova ; Bak, Mads ; Pourhadi, Nelsan ; Stenør, Christian Midtgaard ; Grønborg, Sabine. / Case report : ‘AARS2 leukodystrophy’. I: Molecular Genetics and Metabolism Reports. 2021 ; Bind 28.

Bibtex

@article{2bf1bd76fcad4bc5b0f2a405fab300c5,
title = "Case report: {\textquoteleft}AARS2 leukodystrophy{\textquoteright}",
abstract = "Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. Case presentation: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature. Utilizing MRI and whole genome sequencing, the patient was diagnosed with a homozygous AARS2 missense variant (NM_020745.3:c.650C > T; p.(Pro217Leu)) and a homozygous CAPN3 variant (NM_000070.2: c.1469G > A; p.(Arg490Gln)), both variants have previously been identified in patients suffering from AARS2 related leukodystrophy and limb-girdle muscular dystrophy, respectively. Conclusions: This case report presents a case of homozygous AARS2 leukodystrophy and serves to highlight the importance of whole genome sequencing in diagnosing rare neurological diseases as well as to add to the awareness of adult onset leukodystrophies.",
keywords = "AARS2, Adult onset leukodystrophies, Case report, Inborn errors of metabolism, Limb-girdle muscular dystrophy, Whole genome sequencing",
author = "Axelsen, {Tobias Melton} and Vammen, {Tzvetelina Lubenova} and Mads Bak and Nelsan Pourhadi and Sten{\o}r, {Christian Midtgaard} and Sabine Gr{\o}nborg",
note = "Publisher Copyright: {\textcopyright} 2021",
year = "2021",
month = sep,
doi = "10.1016/j.ymgmr.2021.100782",
language = "English",
volume = "28",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Case report

T2 - ‘AARS2 leukodystrophy’

AU - Axelsen, Tobias Melton

AU - Vammen, Tzvetelina Lubenova

AU - Bak, Mads

AU - Pourhadi, Nelsan

AU - Stenør, Christian Midtgaard

AU - Grønborg, Sabine

N1 - Publisher Copyright: © 2021

PY - 2021/9

Y1 - 2021/9

N2 - Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. Case presentation: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature. Utilizing MRI and whole genome sequencing, the patient was diagnosed with a homozygous AARS2 missense variant (NM_020745.3:c.650C > T; p.(Pro217Leu)) and a homozygous CAPN3 variant (NM_000070.2: c.1469G > A; p.(Arg490Gln)), both variants have previously been identified in patients suffering from AARS2 related leukodystrophy and limb-girdle muscular dystrophy, respectively. Conclusions: This case report presents a case of homozygous AARS2 leukodystrophy and serves to highlight the importance of whole genome sequencing in diagnosing rare neurological diseases as well as to add to the awareness of adult onset leukodystrophies.

AB - Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. Case presentation: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature. Utilizing MRI and whole genome sequencing, the patient was diagnosed with a homozygous AARS2 missense variant (NM_020745.3:c.650C > T; p.(Pro217Leu)) and a homozygous CAPN3 variant (NM_000070.2: c.1469G > A; p.(Arg490Gln)), both variants have previously been identified in patients suffering from AARS2 related leukodystrophy and limb-girdle muscular dystrophy, respectively. Conclusions: This case report presents a case of homozygous AARS2 leukodystrophy and serves to highlight the importance of whole genome sequencing in diagnosing rare neurological diseases as well as to add to the awareness of adult onset leukodystrophies.

KW - AARS2

KW - Adult onset leukodystrophies

KW - Case report

KW - Inborn errors of metabolism

KW - Limb-girdle muscular dystrophy

KW - Whole genome sequencing

U2 - 10.1016/j.ymgmr.2021.100782

DO - 10.1016/j.ymgmr.2021.100782

M3 - Journal article

C2 - 34285876

AN - SCOPUS:85109479469

VL - 28

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

SN - 2214-4269

M1 - 100782

ER -

ID: 285948868