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Visual memory failure presages conversion to MELAS phenotype

OBJECTIVE: To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). METHODS: Memory performance and brain me...

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Autores principales: Leaffer, Emily B., De Vivo, Darryl C., Engelstad, Kristin, Fryer, Robert H., Gu, Yian, Shungu, Dikoma C., Hirano, Michio, DiMauro, Salvatore, Hinton, Veronica J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186137/
https://www.ncbi.nlm.nih.gov/pubmed/35522125
http://dx.doi.org/10.1002/acn3.51564
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author Leaffer, Emily B.
De Vivo, Darryl C.
Engelstad, Kristin
Fryer, Robert H.
Gu, Yian
Shungu, Dikoma C.
Hirano, Michio
DiMauro, Salvatore
Hinton, Veronica J.
author_facet Leaffer, Emily B.
De Vivo, Darryl C.
Engelstad, Kristin
Fryer, Robert H.
Gu, Yian
Shungu, Dikoma C.
Hirano, Michio
DiMauro, Salvatore
Hinton, Veronica J.
author_sort Leaffer, Emily B.
collection PubMed
description OBJECTIVE: To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). METHODS: Memory performance and brain metabolites (ventricular lactate, occipital lactate, and occipital NAA) were examined in 18 MELAS, 58 m.3243A > G carriers, and 20 familial controls. Measures included the Selective Reminding Test (verbal memory), Benton Visuospatial Retention Test (visual memory), and MR Spectroscopy (NAA, Lactate). ANOVA, chi‐squared/Fisher’s exact tests, paired t‐tests, Pearson correlations, and Spearman correlations were used. RESULTS: When compared to carriers and controls, MELAS patients had the: (1) most impaired memory functions (Visual: p = 0.0003; Verbal: p = 0.02), (2) greatest visual than verbal memory impairment, (3) highest brain lactate levels (p < 0.0001), and (4) lowest brain NAA levels (p = 0.0003). Occipital and ventricular lactate to NAA ratios correlated significantly with visual memory performance (p ≤ 0.001). Higher lactate levels (p ≤ 0.01) and lower NAA levels (p = 0.0009) correlated specifically with greater visual memory dysfunction in MELAS. There was little or no correlation with verbal memory. INTERPRETATION: Individuals with MELAS are at increased risk for impaired memory. Although verbal and visual memory are both affected, visual memory is preferentially affected and more clearly associated with brain metabolite levels. Preferential involvement of posterior brain regions is a distinctive clinical signature of MELAS. We now report a distinctive cognitive phenotype that targets visual memory more prominently and earlier than verbal memory. We speculate that this finding in carriers presages a conversion to the MELAS phenotype.
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spelling pubmed-91861372022-06-14 Visual memory failure presages conversion to MELAS phenotype Leaffer, Emily B. De Vivo, Darryl C. Engelstad, Kristin Fryer, Robert H. Gu, Yian Shungu, Dikoma C. Hirano, Michio DiMauro, Salvatore Hinton, Veronica J. Ann Clin Transl Neurol Research Articles OBJECTIVE: To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). METHODS: Memory performance and brain metabolites (ventricular lactate, occipital lactate, and occipital NAA) were examined in 18 MELAS, 58 m.3243A > G carriers, and 20 familial controls. Measures included the Selective Reminding Test (verbal memory), Benton Visuospatial Retention Test (visual memory), and MR Spectroscopy (NAA, Lactate). ANOVA, chi‐squared/Fisher’s exact tests, paired t‐tests, Pearson correlations, and Spearman correlations were used. RESULTS: When compared to carriers and controls, MELAS patients had the: (1) most impaired memory functions (Visual: p = 0.0003; Verbal: p = 0.02), (2) greatest visual than verbal memory impairment, (3) highest brain lactate levels (p < 0.0001), and (4) lowest brain NAA levels (p = 0.0003). Occipital and ventricular lactate to NAA ratios correlated significantly with visual memory performance (p ≤ 0.001). Higher lactate levels (p ≤ 0.01) and lower NAA levels (p = 0.0009) correlated specifically with greater visual memory dysfunction in MELAS. There was little or no correlation with verbal memory. INTERPRETATION: Individuals with MELAS are at increased risk for impaired memory. Although verbal and visual memory are both affected, visual memory is preferentially affected and more clearly associated with brain metabolite levels. Preferential involvement of posterior brain regions is a distinctive clinical signature of MELAS. We now report a distinctive cognitive phenotype that targets visual memory more prominently and earlier than verbal memory. We speculate that this finding in carriers presages a conversion to the MELAS phenotype. John Wiley and Sons Inc. 2022-05-06 /pmc/articles/PMC9186137/ /pubmed/35522125 http://dx.doi.org/10.1002/acn3.51564 Text en © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Research Articles
Leaffer, Emily B.
De Vivo, Darryl C.
Engelstad, Kristin
Fryer, Robert H.
Gu, Yian
Shungu, Dikoma C.
Hirano, Michio
DiMauro, Salvatore
Hinton, Veronica J.
Visual memory failure presages conversion to MELAS phenotype
title Visual memory failure presages conversion to MELAS phenotype
title_full Visual memory failure presages conversion to MELAS phenotype
title_fullStr Visual memory failure presages conversion to MELAS phenotype
title_full_unstemmed Visual memory failure presages conversion to MELAS phenotype
title_short Visual memory failure presages conversion to MELAS phenotype
title_sort visual memory failure presages conversion to melas phenotype
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186137/
https://www.ncbi.nlm.nih.gov/pubmed/35522125
http://dx.doi.org/10.1002/acn3.51564
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