POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults
•POLG mutations account for about 14.9 % of the recessive and sporadic ataxias in adults.•In some cases of POLG-associated ataxia, brain MRI may not show abnormalities.•p.L311P and p.L931R are the new POLG mutations corresponding to the SANDO phenotype. We aimed to analyze prevalence, clinical, and...
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| Veröffentlicht in: | Clinical neurology and neurosurgery 2021-02, Vol.201, p.106462, Article 106462 |
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| creator | Nuzhnyi, Evgenii Seliverstov, Yury Klyushnikov, Sergey Krylova, Tatiana Tsygankova, Polina Bychkov, Igor Zakharova, Ekaterina Konovalov, Rodion Fedin, Pavel Abramycheva, Natalia Illarioshkin, Sergey |
| description | •POLG mutations account for about 14.9 % of the recessive and sporadic ataxias in adults.•In some cases of POLG-associated ataxia, brain MRI may not show abnormalities.•p.L311P and p.L931R are the new POLG mutations corresponding to the SANDO phenotype.
We aimed to analyze prevalence, clinical, and genetic characteristics of the POLG-associated ataxias in a cohort of recessive and sporadic ataxias in adults with previously excluded acquired ataxias.
We did a retrospective analysis of the medical records of 74 patients older than 18 years referred to the Research Center of Neurology between 2012 and 2019 with progressive sporadic or autosomal recessive ataxia with onset before 50 years of age. A stepwise approach in genetic testing was used. All patients with genetically confirmed POLG-associated disorders underwent clinical, biochemical, electrophysiological, and neuroimaging assessments.
In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was identified in 11 individuals (14.9 %). The median age of onset was 30 years. One patient had a positive family history. The core clinical syndrome included external ophthalmoparesis, cerebellar signs, and sensory neuropathy. In all patients, the Montreal Cognitive Assessment score was less than 26. All but 3 patients had specific brain MRI changes. Mutation spectrum of the POLG gene in our cohort is discussed.
Our study shows that POLG-associated ataxias comprise a significant part of the recessive and sporadic ataxias in adults in the Russian population after excluding acquired causes of ataxic disorders. We suggest first screening patients with specific clinical and (or) neuroimaging features for the population-specific common POLG mutations, followed by the NGS panel testing where necessary. In future clinical studies, thorough cognitive and neuropsychiatric profiling is needed to complete the phenotype of the POLG-related disorders. |
| doi_str_mv | 10.1016/j.clineuro.2020.106462 |
| format | Article |
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We aimed to analyze prevalence, clinical, and genetic characteristics of the POLG-associated ataxias in a cohort of recessive and sporadic ataxias in adults with previously excluded acquired ataxias.
We did a retrospective analysis of the medical records of 74 patients older than 18 years referred to the Research Center of Neurology between 2012 and 2019 with progressive sporadic or autosomal recessive ataxia with onset before 50 years of age. A stepwise approach in genetic testing was used. All patients with genetically confirmed POLG-associated disorders underwent clinical, biochemical, electrophysiological, and neuroimaging assessments.
In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was identified in 11 individuals (14.9 %). The median age of onset was 30 years. One patient had a positive family history. The core clinical syndrome included external ophthalmoparesis, cerebellar signs, and sensory neuropathy. In all patients, the Montreal Cognitive Assessment score was less than 26. All but 3 patients had specific brain MRI changes. Mutation spectrum of the POLG gene in our cohort is discussed.
Our study shows that POLG-associated ataxias comprise a significant part of the recessive and sporadic ataxias in adults in the Russian population after excluding acquired causes of ataxic disorders. We suggest first screening patients with specific clinical and (or) neuroimaging features for the population-specific common POLG mutations, followed by the NGS panel testing where necessary. In future clinical studies, thorough cognitive and neuropsychiatric profiling is needed to complete the phenotype of the POLG-related disorders.</description><identifier>ISSN: 0303-8467</identifier><identifier>EISSN: 1872-6968</identifier><identifier>DOI: 10.1016/j.clineuro.2020.106462</identifier><identifier>PMID: 33434755</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Ataxia ; Brain research ; Cerebellum ; Clinical presentation ; Cognitive ability ; Convulsions & seizures ; Deoxyribonucleic acid ; DNA ; DNA polymerase ; Dysarthria ; Electrocardiography ; Genes ; Genetic screening ; Genomics ; Genotype & phenotype ; Laboratories ; Magnetic resonance imaging ; Medical imaging ; Medical records ; MEMSA ; Mental disorders ; Mitochondrial DNA ; Mutation ; Neuroimaging ; Neurology ; Neuropathy ; Patients ; Phenotypes ; POLG ; SANDO</subject><ispartof>Clinical neurology and neurosurgery, 2021-02, Vol.201, p.106462, Article 106462</ispartof><rights>2021 Elsevier B.V.</rights><rights>Copyright © 2021 Elsevier B.V. All rights reserved.</rights><rights>2021. Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c363t-b86f868285d3a4a5200fd872cf6eabf5e2f510a7aecfc6d9e60fc9c6ba2cd0493</citedby><cites>FETCH-LOGICAL-c363t-b86f868285d3a4a5200fd872cf6eabf5e2f510a7aecfc6d9e60fc9c6ba2cd0493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2484891897?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995,64385,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33434755$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nuzhnyi, Evgenii</creatorcontrib><creatorcontrib>Seliverstov, Yury</creatorcontrib><creatorcontrib>Klyushnikov, Sergey</creatorcontrib><creatorcontrib>Krylova, Tatiana</creatorcontrib><creatorcontrib>Tsygankova, Polina</creatorcontrib><creatorcontrib>Bychkov, Igor</creatorcontrib><creatorcontrib>Zakharova, Ekaterina</creatorcontrib><creatorcontrib>Konovalov, Rodion</creatorcontrib><creatorcontrib>Fedin, Pavel</creatorcontrib><creatorcontrib>Abramycheva, Natalia</creatorcontrib><creatorcontrib>Illarioshkin, Sergey</creatorcontrib><title>POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults</title><title>Clinical neurology and neurosurgery</title><addtitle>Clin Neurol Neurosurg</addtitle><description>•POLG mutations account for about 14.9 % of the recessive and sporadic ataxias in adults.•In some cases of POLG-associated ataxia, brain MRI may not show abnormalities.•p.L311P and p.L931R are the new POLG mutations corresponding to the SANDO phenotype.
We aimed to analyze prevalence, clinical, and genetic characteristics of the POLG-associated ataxias in a cohort of recessive and sporadic ataxias in adults with previously excluded acquired ataxias.
We did a retrospective analysis of the medical records of 74 patients older than 18 years referred to the Research Center of Neurology between 2012 and 2019 with progressive sporadic or autosomal recessive ataxia with onset before 50 years of age. A stepwise approach in genetic testing was used. All patients with genetically confirmed POLG-associated disorders underwent clinical, biochemical, electrophysiological, and neuroimaging assessments.
In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was identified in 11 individuals (14.9 %). The median age of onset was 30 years. One patient had a positive family history. The core clinical syndrome included external ophthalmoparesis, cerebellar signs, and sensory neuropathy. In all patients, the Montreal Cognitive Assessment score was less than 26. All but 3 patients had specific brain MRI changes. Mutation spectrum of the POLG gene in our cohort is discussed.
Our study shows that POLG-associated ataxias comprise a significant part of the recessive and sporadic ataxias in adults in the Russian population after excluding acquired causes of ataxic disorders. We suggest first screening patients with specific clinical and (or) neuroimaging features for the population-specific common POLG mutations, followed by the NGS panel testing where necessary. In future clinical studies, thorough cognitive and neuropsychiatric profiling is needed to complete the phenotype of the POLG-related disorders.</description><subject>Ataxia</subject><subject>Brain research</subject><subject>Cerebellum</subject><subject>Clinical presentation</subject><subject>Cognitive ability</subject><subject>Convulsions & seizures</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA polymerase</subject><subject>Dysarthria</subject><subject>Electrocardiography</subject><subject>Genes</subject><subject>Genetic screening</subject><subject>Genomics</subject><subject>Genotype & phenotype</subject><subject>Laboratories</subject><subject>Magnetic resonance imaging</subject><subject>Medical imaging</subject><subject>Medical records</subject><subject>MEMSA</subject><subject>Mental disorders</subject><subject>Mitochondrial DNA</subject><subject>Mutation</subject><subject>Neuroimaging</subject><subject>Neurology</subject><subject>Neuropathy</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>POLG</subject><subject>SANDO</subject><issn>0303-8467</issn><issn>1872-6968</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkM1LxDAQxYMoun78CxLw3DVN2jS9KeIXLOhBz2GaTCDL2tZMKvrf22XVq6eBmffe8H6MnZdiWYpSX66XbhN7nNKwlEJul7rSco8tStPIQrfa7LOFUEIVptLNETsmWgshlNLmkB0pVamqqesF889Pq_sCiAYXIaPnkOEzAnEHPU84JiTsMwdOU0cZ-hxhw0dImQ9hvjskih_IofecxiGBj-4vIvYc_LTJdMoOAmwIz37mCXu9u325eShWT_ePN9erwimtctEZHYw20tReQQW1FCL4uY4LGqELNcpQlwIaQBec9i1qEVzrdAfSeVG16oRd7HLHNLxPSNmuhyn180srK1OZtjRtM6v0TuXSQJQw2DHFN0hfthR2C9eu7S9cu4Vrd3Bn4_lP_NS9of-z_dKcBVc7Ac4lPyImSy5i79DHGVW2foj__fgGr56QLw</recordid><startdate>202102</startdate><enddate>202102</enddate><creator>Nuzhnyi, Evgenii</creator><creator>Seliverstov, Yury</creator><creator>Klyushnikov, Sergey</creator><creator>Krylova, Tatiana</creator><creator>Tsygankova, Polina</creator><creator>Bychkov, Igor</creator><creator>Zakharova, Ekaterina</creator><creator>Konovalov, Rodion</creator><creator>Fedin, Pavel</creator><creator>Abramycheva, Natalia</creator><creator>Illarioshkin, Sergey</creator><general>Elsevier B.V</general><general>Elsevier Limited</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope></search><sort><creationdate>202102</creationdate><title>POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults</title><author>Nuzhnyi, Evgenii ; 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We aimed to analyze prevalence, clinical, and genetic characteristics of the POLG-associated ataxias in a cohort of recessive and sporadic ataxias in adults with previously excluded acquired ataxias.
We did a retrospective analysis of the medical records of 74 patients older than 18 years referred to the Research Center of Neurology between 2012 and 2019 with progressive sporadic or autosomal recessive ataxia with onset before 50 years of age. A stepwise approach in genetic testing was used. All patients with genetically confirmed POLG-associated disorders underwent clinical, biochemical, electrophysiological, and neuroimaging assessments.
In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was identified in 11 individuals (14.9 %). The median age of onset was 30 years. One patient had a positive family history. The core clinical syndrome included external ophthalmoparesis, cerebellar signs, and sensory neuropathy. In all patients, the Montreal Cognitive Assessment score was less than 26. All but 3 patients had specific brain MRI changes. Mutation spectrum of the POLG gene in our cohort is discussed.
Our study shows that POLG-associated ataxias comprise a significant part of the recessive and sporadic ataxias in adults in the Russian population after excluding acquired causes of ataxic disorders. We suggest first screening patients with specific clinical and (or) neuroimaging features for the population-specific common POLG mutations, followed by the NGS panel testing where necessary. In future clinical studies, thorough cognitive and neuropsychiatric profiling is needed to complete the phenotype of the POLG-related disorders.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>33434755</pmid><doi>10.1016/j.clineuro.2020.106462</doi></addata></record> |
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| ispartof | Clinical neurology and neurosurgery, 2021-02, Vol.201, p.106462, Article 106462 |
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| subjects | Ataxia Brain research Cerebellum Clinical presentation Cognitive ability Convulsions & seizures Deoxyribonucleic acid DNA DNA polymerase Dysarthria Electrocardiography Genes Genetic screening Genomics Genotype & phenotype Laboratories Magnetic resonance imaging Medical imaging Medical records MEMSA Mental disorders Mitochondrial DNA Mutation Neuroimaging Neurology Neuropathy Patients Phenotypes POLG SANDO |
| title | POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults |
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