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MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.

C A P F Alves1, A Zandifar2, J T Peterson3

  • 1From the Division of Neuroradiology (C.A.P.F.A., A.Z., S.A., A.V.), Department of Radiology alvesc@chop.edu.

AJNR. American Journal of Neuroradiology
|April 6, 2023
PubMed
Summary
This summary is machine-generated.

Researchers identified two distinct MELAS phenotypes: classic and atypical mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS). This classification aids in understanding MELAS natural history and guiding targeted therapies.

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Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) presents with increasing pathogenic variants and variable clinical outcomes.
  • Phenotypic variability in MELAS poses diagnostic challenges and impacts treatment response.

Observation:

  • A retrospective study analyzed clinical, neuroimaging, laboratory, and genetic data from 35 MELAS patients.
  • Unsupervised cluster analysis revealed two distinct MELAS phenotypes.
  • Eight key variables, termed 'victory-variables,' differentiated these subgroups.

Findings:

  • The identified "victory-variables" include developmental delay, sensorineural hearing loss, vision loss, Leigh syndrome overlap, age at first stroke, lesion size, lesion distribution, and genetic groups.
  • Two distinct MELAS patterns were defined: classic MELAS and atypical MELAS.
  • A 2-step classification system was developed to distinguish atypical MELAS cases.

Implications:

  • Recognizing distinct MELAS patterns improves understanding of disease natural history and prognosis.
  • This classification facilitates identification of patients who may benefit from specific therapeutic interventions.
  • Improved diagnostic criteria can guide neurologists and radiologists in managing MELAS patients.