Cargando…

Case report: ‘AARS2 leukodystrophy’

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-...

Descripción completa

Detalles Bibliográficos
Autores principales: Axelsen, Tobias Melton, Vammen, Tzvetelina Lubenova, Bak, Mads, Pourhadi, Nelsan, Stenør, Christian Midtgaard, Grønborg, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/
https://www.ncbi.nlm.nih.gov/pubmed/34285876
http://dx.doi.org/10.1016/j.ymgmr.2021.100782
_version_ 1783722647875485696
author Axelsen, Tobias Melton
Vammen, Tzvetelina Lubenova
Bak, Mads
Pourhadi, Nelsan
Stenør, Christian Midtgaard
Grønborg, Sabine
author_facet Axelsen, Tobias Melton
Vammen, Tzvetelina Lubenova
Bak, Mads
Pourhadi, Nelsan
Stenør, Christian Midtgaard
Grønborg, Sabine
author_sort Axelsen, Tobias Melton
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8280508
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-82805082021-07-19 Case report: ‘AARS2 leukodystrophy’ Axelsen, Tobias Melton Vammen, Tzvetelina Lubenova Bak, Mads Pourhadi, Nelsan Stenør, Christian Midtgaard Grønborg, Sabine Mol Genet Metab Rep Case Report 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. Elsevier 2021-07-13 /pmc/articles/PMC8280508/ /pubmed/34285876 http://dx.doi.org/10.1016/j.ymgmr.2021.100782 Text en © 2021 The Authors. Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Axelsen, Tobias Melton
Vammen, Tzvetelina Lubenova
Bak, Mads
Pourhadi, Nelsan
Stenør, Christian Midtgaard
Grønborg, Sabine
Case report: ‘AARS2 leukodystrophy’
title Case report: ‘AARS2 leukodystrophy’
title_full Case report: ‘AARS2 leukodystrophy’
title_fullStr Case report: ‘AARS2 leukodystrophy’
title_full_unstemmed Case report: ‘AARS2 leukodystrophy’
title_short Case report: ‘AARS2 leukodystrophy’
title_sort case report: ‘aars2 leukodystrophy’
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/
https://www.ncbi.nlm.nih.gov/pubmed/34285876
http://dx.doi.org/10.1016/j.ymgmr.2021.100782
work_keys_str_mv AT axelsentobiasmelton casereportaars2leukodystrophy
AT vammentzvetelinalubenova casereportaars2leukodystrophy
AT bakmads casereportaars2leukodystrophy
AT pourhadinelsan casereportaars2leukodystrophy
AT stenørchristianmidtgaard casereportaars2leukodystrophy
AT grønborgsabine casereportaars2leukodystrophy