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Visual memory failure presages conversion to MELAS phenotype.

Emily B Leaffer1,2,3, Darryl C De Vivo4, Kristin Engelstad4

  • 1Sergievsky Center & Department of Neurology, Columbia University, New York City, New York, USA.

Annals of Clinical and Translational Neurology
|May 6, 2022
PubMed
Summary
This summary is machine-generated.

Individuals with MELAS experience impaired memory, particularly visual memory, which correlates with brain lactate and N-Acetylaspartate (NAA) levels. This suggests a distinct cognitive profile in MELAS patients.

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Area of Science:

  • Neuroscience
  • Neurology
  • Genetics

Background:

  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare genetic disorder.
  • Cognitive impairment, including memory deficits, is a known complication of MELAS.
  • The relationship between specific brain metabolites and memory function in MELAS is not fully understood.

Purpose of the Study:

  • To investigate the correlation between verbal and visual memory function and brain metabolites (lactate and N-Acetylaspartate, NAA) in individuals with MELAS.
  • To determine if specific metabolite levels are associated with the degree of memory impairment in MELAS patients.

Main Methods:

  • The study included 18 MELAS patients, 58 carriers of the m.3243A>G mutation, and 20 familial controls.
  • Verbal memory was assessed using the Selective Reminding Test, and visual memory using the Benton Visuospatial Retention Test.
  • Brain metabolites (NAA, Lactate) were measured using MR Spectroscopy, and statistical analyses included ANOVA and correlation tests.

Main Results:

  • MELAS patients exhibited significantly more impaired verbal and visual memory compared to carriers and controls.
  • Visual memory was more affected than verbal memory in MELAS patients.
  • Elevated brain lactate and reduced NAA levels were observed in MELAS patients and correlated with visual memory dysfunction.

Conclusions:

  • Individuals with MELAS have a high risk of memory impairment, with a preferential deficit in visual memory.
  • Brain metabolite levels, specifically lactate and NAA, are significantly associated with visual memory deficits in MELAS.
  • The findings suggest a distinct cognitive phenotype in MELAS that may precede or accompany the neurological manifestations.