Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

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dc.contributor.authorKose, Melis
dc.contributor.authorKose, Engin
dc.contributor.authorUnalp, Aycan
dc.contributor.authorYilmaz, Unsal
dc.contributor.authorEdizer, Selvinaz
dc.contributor.authorTekin, Hande Gazeteci
dc.contributor.authorYildirim, Eser Sozmen
dc.date.accessioned2021-05-03T20:28:04Z
dc.date.available2021-05-03T20:28:04Z
dc.date.issued2021
dc.departmentEge Üniversitesien_US
dc.description.abstractIntroduction and purpose Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. in our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. Material and method This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. Results A total of 14 patients were diagnosed with different types of NCL. of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) Conclusion This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.en_US
dc.identifier.doi10.1007/s10072-021-05067-8en_US
dc.identifier.endpage1111en_US
dc.identifier.issn1590-1874
dc.identifier.issn1590-3478
dc.identifier.issue3en_US
dc.identifier.pmid33486620en_US
dc.identifier.scopus2-s2.0-85099908329en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1103en_US
dc.identifier.urihttps://doi.org/10.1007/s10072-021-05067-8
dc.identifier.urihttps://hdl.handle.net/11454/69733
dc.identifier.volume42en_US
dc.identifier.wosWOS:000610461900002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer-Verlag Italia Srlen_US
dc.relation.ispartofNeurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNeuronal ceroid lipofuscinosesen_US
dc.subjectNeurodegenerationen_US
dc.subjectEpilepsyen_US
dc.subjectInborn errors of metabolismen_US
dc.subjectCerebral atrophiaen_US
dc.titleNeuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkeyen_US
dc.typeArticleen_US

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