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Case report: 'AARS2 leukodystrophy'.

Tobias Melton Axelsen1,2, Tzvetelina Lubenova Vammen3, Mads Bak4

  • 1Sanos Clinic, Herlev, Denmark.

Molecular Genetics and Metabolism Reports
|July 21, 2021
PubMed
Summary
This summary is machine-generated.

This study reports a rare case of adult-onset leukodystrophy caused by AARS2 gene variants. Whole genome sequencing was crucial for diagnosing this ultra-rare neurological disorder.

Keywords:
AARS2AARS2, Mitochondrial alanyl-tRNA synthetase 2 geneAARS2-L, Mitochondrial alanyl-tRNA synthetase 2 gene leukodystrophyADLs, activities of daily livingALSP, Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaAdult onset leukodystrophiesCSF, Cerebrospinal fluidCSF1R, Colony stimulating factor-1 receptorCase reportDARS2, Deficiency of aspartyl-tRNAEARS2, Deficiency of glutamate-tRNA synthetaseHDLS, Hereditary Diffuse Leukodystrophy with axonal SpheroidsIEM, Inborn errors of metabolismInborn errors of metabolismLGMD R1, Limb-girdle muscular dystrophy R1 calpain3-relatedLimb-girdle muscular dystrophyMMSE, Mini-Mental State ExaminationMt-aaRS, Mitochondrial aminoacyl-tRNA synthetaseWhole genome sequencingmtDNA, Mitochondrial DNA

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Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Biology

Background:

  • Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder.
  • It affects mitochondrial metabolism, causing severe cardiac issues in infants or progressive leukodystrophy in young adults.
  • AARS2-leukodystrophy is ultra-rare, with only 39 cases previously reported.

Observation:

  • A case of a young man with consanguineous heritage presenting with cognitive decline, progressive spasticity, and proximal muscle weakness.
  • The patient was diagnosed using MRI and whole genome sequencing.
  • Identified homozygous variants: AARS2 (c.650C>T; p.(Pro217Leu)) and CAPN3 (c.1469G>A; p.(Arg490Gln)).

Findings:

  • The patient was diagnosed with homozygous AARS2 leukodystrophy.
  • The identified AARS2 variant has been previously linked to AARS2-related leukodystrophy.
  • The identified CAPN3 variant has been previously linked to limb-girdle muscular dystrophy.

Implications:

  • This case highlights the diagnostic utility of whole genome sequencing for rare neurological diseases.
  • It expands the awareness of adult-onset leukodystrophies.
  • Further research into AARS2-related disorders and their genetic underpinnings is warranted.