Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study
Classically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Ou...
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| creator | Nasri, Amina Gharbi, Alya Sghaier, Ikram Mrabet, Saloua Souissi, Amira Gargouri, Amina Djebara, Mouna Ben Kacem, Imen Gouider, Riadh |
| description | Classically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Our aim was to evaluate the cognitive profile of MSA Tunisian patients and to analyze the underlying clinical and genetic determinants.
In a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified.
We included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010).
In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes. |
| doi_str_mv | 10.1371/journal.pone.0277798 |
| format | Article |
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In a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified.
We included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010).
In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0277798</identifier><identifier>PMID: 36508411</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Activities of daily living ; Analysis ; Apolipoprotein E ; Atrophy ; Basal ganglia ; Behavior disorders ; Biology and Life Sciences ; Central nervous system diseases ; Cerebellum ; Cognition ; Cognition & reasoning ; Cognitive ability ; Cognitive Dysfunction ; Complications and side effects ; Cross-Sectional Studies ; Dementia disorders ; Diagnosis ; Domains ; Dysautonomia ; Female ; Gait ; Gender ; Genotypes ; Genotyping ; Humans ; Impairment ; Language ; Medicine and Health Sciences ; Movement disorders ; Multiple System Atrophy - diagnosis ; Neuropsychological Tests ; Parkinson's disease ; Parkinsons disease ; Phenotypes ; Retrospective Studies ; Sex ratio ; Social Sciences</subject><ispartof>PloS one, 2022-12, Vol.17 (12), p.e0277798-e0277798</ispartof><rights>Copyright: © 2022 Nasri et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</rights><rights>COPYRIGHT 2022 Public Library of Science</rights><rights>2022 Nasri et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 Nasri et al 2022 Nasri et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-a10f713e1f60b971f1ba64e7e125e0c793c70569dae4dcd8dc82d36868ecad483</citedby><cites>FETCH-LOGICAL-c692t-a10f713e1f60b971f1ba64e7e125e0c793c70569dae4dcd8dc82d36868ecad483</cites><orcidid>0000-0002-5647-2598 ; 0000-0002-8578-7484 ; 0000-0001-8198-7668 ; 0000-0002-9231-3615 ; 0000-0001-9615-3797</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744291/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744291/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36508411$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Virmani, Tuhin</contributor><creatorcontrib>Nasri, Amina</creatorcontrib><creatorcontrib>Gharbi, Alya</creatorcontrib><creatorcontrib>Sghaier, Ikram</creatorcontrib><creatorcontrib>Mrabet, Saloua</creatorcontrib><creatorcontrib>Souissi, Amira</creatorcontrib><creatorcontrib>Gargouri, Amina</creatorcontrib><creatorcontrib>Djebara, Mouna Ben</creatorcontrib><creatorcontrib>Kacem, Imen</creatorcontrib><creatorcontrib>Gouider, Riadh</creatorcontrib><title>Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Classically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Our aim was to evaluate the cognitive profile of MSA Tunisian patients and to analyze the underlying clinical and genetic determinants.
In a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified.
We included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010).
In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.</description><subject>Activities of daily living</subject><subject>Analysis</subject><subject>Apolipoprotein E</subject><subject>Atrophy</subject><subject>Basal ganglia</subject><subject>Behavior disorders</subject><subject>Biology and Life Sciences</subject><subject>Central nervous system diseases</subject><subject>Cerebellum</subject><subject>Cognition</subject><subject>Cognition & reasoning</subject><subject>Cognitive ability</subject><subject>Cognitive Dysfunction</subject><subject>Complications and side effects</subject><subject>Cross-Sectional Studies</subject><subject>Dementia 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Alya</au><au>Sghaier, Ikram</au><au>Mrabet, Saloua</au><au>Souissi, Amira</au><au>Gargouri, Amina</au><au>Djebara, Mouna Ben</au><au>Kacem, Imen</au><au>Gouider, Riadh</au><au>Virmani, Tuhin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2022-12-12</date><risdate>2022</risdate><volume>17</volume><issue>12</issue><spage>e0277798</spage><epage>e0277798</epage><pages>e0277798-e0277798</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Classically, cognitive impairment (CI) was not considered as a paramount feature of multiple system atrophy(MSA) in both parkinsonian(MSA-P) and cerebellar(MSA-C) motor-subtypes. Yet, growing evidence indicates currently the commonness of such deficits among MSA patients in different populations. Our aim was to evaluate the cognitive profile of MSA Tunisian patients and to analyze the underlying clinical and genetic determinants.
In a retrospective cross-sectional study, clinically-diagnosed MSA patients were included. All subjects underwent clinical and neuropsychological assessments to characterize their cognitive profile. The associations with their APOE genotype status were analyzed. Determinant of CI were specified.
We included 71 MSA patients. Female gender(sex-ratio = 0.65) and MSA-P subtype(73%) were predominant. Mean age of disease onset was 59.1years. CI was found in 85.7% of patients(dementia in 12.7% and Mild cognitive impairment(MCI) in 73% of patients mainly of multiple-domain amnestic type(37.3%)). Mean MMSE score was lower among MSA-P compared to MSA-C(23.52 vs. 26.47;p = 0.027). Higher postural instability gait disorder(PIGD) and MDS-UPDRS-III scores were noted in demented MSA patients(p = 0.019;p = 0.015 respectively). The main altered cognitive domain was attention(64.8%). Executive functions and mood disorders were more affected in MSA-P(p = 0.029,p = 0.035 respectively). Clinical and neurophysiological study of dysautonomia revealed no differences across cognitive subtypes. APOE genotyping was performed in 51 MSA patients with available blood samples. Those carrying APOEε4 had 1.32 fold higher risk to develop CI, with lower MMSE score(p = 0.0001). Attention and language were significantly altered by adjusting the p value to APOEɛ4 carriers(p = 0.046 and p = 0.044 respectively). Executive dysfunction was more pronounced among MSA-PAPOEε4 carriers(p = 0.010).
In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>36508411</pmid><doi>10.1371/journal.pone.0277798</doi><tpages>e0277798</tpages><orcidid>https://orcid.org/0000-0002-5647-2598</orcidid><orcidid>https://orcid.org/0000-0002-8578-7484</orcidid><orcidid>https://orcid.org/0000-0001-8198-7668</orcidid><orcidid>https://orcid.org/0000-0002-9231-3615</orcidid><orcidid>https://orcid.org/0000-0001-9615-3797</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2022-12, Vol.17 (12), p.e0277798-e0277798 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2753573683 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS); EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Activities of daily living Analysis Apolipoprotein E Atrophy Basal ganglia Behavior disorders Biology and Life Sciences Central nervous system diseases Cerebellum Cognition Cognition & reasoning Cognitive ability Cognitive Dysfunction Complications and side effects Cross-Sectional Studies Dementia disorders Diagnosis Domains Dysautonomia Female Gait Gender Genotypes Genotyping Humans Impairment Language Medicine and Health Sciences Movement disorders Multiple System Atrophy - diagnosis Neuropsychological Tests Parkinson's disease Parkinsons disease Phenotypes Retrospective Studies Sex ratio Social Sciences |
| title | Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study |
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