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Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism.

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Title: Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism.
Authors: Mutez, E. (AUTHOR), Swiderski, M. (AUTHOR), Devos, D. (AUTHOR), Moreau, C. (AUTHOR), Baille, G. (AUTHOR), Degardin, A. (AUTHOR), Ryckewaert, G. (AUTHOR), Carriere, N. (AUTHOR), Kreisler, A. (AUTHOR), Simonin, C. (AUTHOR), Rouaix, N. (AUTHOR), Tir, M. (AUTHOR), Krystkowiak, P. (AUTHOR), Ramdane, N. (AUTHOR), Génin, M. (AUTHOR), Sablonnière, B. (AUTHOR), Defebvre, L. (AUTHOR), Huin, V. (AUTHOR)
Source: European Journal of Neurology. Jun2023, Vol. 30 Issue 6, p1667-1675. 9p.
Subjects: Lewy body dementia, Parkinsonian disorders, Parkinson's disease, Genetic testing, Genetic variation
Abstract: Background and purpose: The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation‐dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson's disease. Methods: In all, 567 patients with parkinsonism from 547 unrelated families were recruited and two MLPAs were performed for each. All pathogenic G2019S variants in the LRRK2 gene were confirmed by Sanger sequencing and the PRKN gene was screened for a second mutation in the cases of one heterozygous structural variant in the PRKN gene. Results: The performance of MLPA was 51/567 (9%) for the entire cohort and included 27 (4.8%) LRRK2 G2019S mutations, 19 (3.4%) PRKN mutations and five (0.9%) SNCA locus duplications. The variables significantly associated with a positive test in the total cohort were North African ancestry (p < 0.0001), female sex (p = 0.004) and younger age at onset (p < 0.0008). Conclusions: Retrospective analysis allowed us to refine our indication criteria: (i) North African ancestry, (ii) an age at onset <40 years or (iii) a familial history of parkinsonism with at least one affected first‐degree relative. Our study highlights the interest of MLPA testing for other parkinsonism cases with a family history, especially for patients with dementia with Lewy bodies or a multiple‐system‐atrophy‐like phenotype. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Mutez%2C+E%2E%22&quot;&gt;Mutez, E.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Swiderski%2C+M%2E%22&quot;&gt;Swiderski, M.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Devos%2C+D%2E%22&quot;&gt;Devos, D.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Moreau%2C+C%2E%22&quot;&gt;Moreau, C.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Baille%2C+G%2E%22&quot;&gt;Baille, G.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Degardin%2C+A%2E%22&quot;&gt;Degardin, A.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ryckewaert%2C+G%2E%22&quot;&gt;Ryckewaert, G.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Carriere%2C+N%2E%22&quot;&gt;Carriere, N.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Kreisler%2C+A%2E%22&quot;&gt;Kreisler, A.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Simonin%2C+C%2E%22&quot;&gt;Simonin, C.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Rouaix%2C+N%2E%22&quot;&gt;Rouaix, N.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Tir%2C+M%2E%22&quot;&gt;Tir, M.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Krystkowiak%2C+P%2E%22&quot;&gt;Krystkowiak, P.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ramdane%2C+N%2E%22&quot;&gt;Ramdane, N.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22G&#233;nin%2C+M%2E%22&quot;&gt;G&#233;nin, M.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Sablonni&#232;re%2C+B%2E%22&quot;&gt;Sablonni&#232;re, B.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Defebvre%2C+L%2E%22&quot;&gt;Defebvre, L.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Huin%2C+V%2E%22&quot;&gt;Huin, V.&lt;/searchLink&gt; (AUTHOR)
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22European+Journal+of+Neurology%22&quot;&gt;European Journal of Neurology&lt;/searchLink&gt;. Jun2023, Vol. 30 Issue 6, p1667-1675. 9p.
– Name: Subject
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Lewy+body+dementia%22&quot;&gt;Lewy body dementia&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Parkinsonian+disorders%22&quot;&gt;Parkinsonian disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Parkinson&#39;s+disease%22&quot;&gt;Parkinson&#39;s disease&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+testing%22&quot;&gt;Genetic testing&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+variation%22&quot;&gt;Genetic variation&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose: The monogenic forms of Parkinson&#39;s disease represent &lt;10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation‐dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson&#39;s disease. Methods: In all, 567 patients with parkinsonism from 547 unrelated families were recruited and two MLPAs were performed for each. All pathogenic G2019S variants in the LRRK2 gene were confirmed by Sanger sequencing and the PRKN gene was screened for a second mutation in the cases of one heterozygous structural variant in the PRKN gene. Results: The performance of MLPA was 51/567 (9%) for the entire cohort and included 27 (4.8%) LRRK2 G2019S mutations, 19 (3.4%) PRKN mutations and five (0.9%) SNCA locus duplications. The variables significantly associated with a positive test in the total cohort were North African ancestry (p &lt; 0.0001), female sex (p = 0.004) and younger age at onset (p &lt; 0.0008). Conclusions: Retrospective analysis allowed us to refine our indication criteria: (i) North African ancestry, (ii) an age at onset &lt;40 years or (iii) a familial history of parkinsonism with at least one affected first‐degree relative. Our study highlights the interest of MLPA testing for other parkinsonism cases with a family history, especially for patients with dementia with Lewy bodies or a multiple‐system‐atrophy‐like phenotype. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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        Value: 10.1111/ene.15788
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        Text: English
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      – SubjectFull: Lewy body dementia
        Type: general
      – SubjectFull: Parkinsonian disorders
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      – SubjectFull: Parkinson's disease
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      – SubjectFull: Genetic testing
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              Text: Jun2023
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