AARS2 leukoencephalopathy

Evidence-based neurology checklist on aars2 leukoencephalopathy: Genetics This is a mitochondrial encephalomyopathy It is caused by mutations in the mitochondrial tRNA synthetase 2 gene The transmission is autosomal recessive The mean onset age is 26 years: the age range is from infancy to 44…

Genetics

  • This is a mitochondrial encephalomyopathy
  • It is caused by mutations in the mitochondrial tRNA synthetase 2 gene
  • The transmission is autosomal recessive
  • The mean onset age is 26 years: the age range is from infancy to 44 years
  • There is an equal sex prevalence

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Other investigations

Acronym

References

  1. Lakshmanan R, Adams ME, Lynch DS, et al. Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurol Genet 2017; 3:e135.
  2. Parra SP, Heckers SH, Wilcox WR, Mcknight CD, Jinnah HA. The emerging neurological spectrum of AARS2-associated disorders. Parkinsonism Relat Disord 2021; 93:50-54.
  3. Tang Y, Qin Q, Xing Y, Guo D, Di L, Jia J. AARS2 leukoencephalopathy: a new variant of mitochondrial encephalomyopathy. Mol Genet Genomic Med 2019; 7:e00582. 
  4. Taglia I, Di Donato I, Bianchi S, et al. AARS2-related ovarioleukodystrophy: clinical and neuroimaging features of three new cases. Acta Neurol Scand 2018; 138:278-283.
  5. van der Knaap MS, Abbink TEM. Ovarioleukodystrophy: vanishing white matter versus AARS2-related ovarioleukodystrophy. Clin Neurol Neurosurg 2018; 171:195.

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