Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review
Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite...
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Frontiers Media S.A.
2025-08-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full |
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| author | Olga P. Parshina Anastasiia A. Buianova Svetlana V. Mikhaylova Sergey V. Piliya Alikhan A. Alikhanov Elena K. Donyush Zinaida A. Kondrashova Nadezhda V. Liakhova Oleg N. Suchalko Alina F. Samitova Anna O. Shmitko Mayya V. Zazhivikhina Natalya A. Votyakova Dmitriy O. Korostin |
| author_facet | Olga P. Parshina Anastasiia A. Buianova Svetlana V. Mikhaylova Sergey V. Piliya Alikhan A. Alikhanov Elena K. Donyush Zinaida A. Kondrashova Nadezhda V. Liakhova Oleg N. Suchalko Alina F. Samitova Anna O. Shmitko Mayya V. Zazhivikhina Natalya A. Votyakova Dmitriy O. Korostin |
| author_sort | Olga P. Parshina |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite various therapeutic regimens, including novel approaches, seizure control could not be achieved. The disease was caused by a previously undescribed pathogenic variant CLN5(NM_006493.4):c.368del (p.Arg123LysfsTer4). This is the first known case of NCL type 5 in Russia. Unusually, the patient also had a cervical lymphangioma requiring separate medical and surgical intervention. This case report contributes to our understanding of the natural history of CLN5-associated NCL and may support the development of gene therapy approaches for its treatment. |
| format | Article |
| id | doaj-art-ba59b4f5ca4e4962b2f7de07fab322b9 |
| institution | Kabale University |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-ba59b4f5ca4e4962b2f7de07fab322b92025-08-25T05:26:14ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-08-011210.3389/fmed.2025.15815971581597Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature reviewOlga P. Parshina0Anastasiia A. Buianova1Svetlana V. Mikhaylova2Sergey V. Piliya3Alikhan A. Alikhanov4Elena K. Donyush5Zinaida A. Kondrashova6Nadezhda V. Liakhova7Oleg N. Suchalko8Alina F. Samitova9Anna O. Shmitko10Mayya V. Zazhivikhina11Natalya A. Votyakova12Dmitriy O. Korostin13Genomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaRussian Children’s Clinical Hospital, Moscow, RussiaGenomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, RussiaNeuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite various therapeutic regimens, including novel approaches, seizure control could not be achieved. The disease was caused by a previously undescribed pathogenic variant CLN5(NM_006493.4):c.368del (p.Arg123LysfsTer4). This is the first known case of NCL type 5 in Russia. Unusually, the patient also had a cervical lymphangioma requiring separate medical and surgical intervention. This case report contributes to our understanding of the natural history of CLN5-associated NCL and may support the development of gene therapy approaches for its treatment.https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/fullneuronal ceroid lipofuscinosisepilepsyCLN5neurodegenerative diseasenext-generation sequencing |
| spellingShingle | Olga P. Parshina Anastasiia A. Buianova Svetlana V. Mikhaylova Sergey V. Piliya Alikhan A. Alikhanov Elena K. Donyush Zinaida A. Kondrashova Nadezhda V. Liakhova Oleg N. Suchalko Alina F. Samitova Anna O. Shmitko Mayya V. Zazhivikhina Natalya A. Votyakova Dmitriy O. Korostin Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review Frontiers in Medicine neuronal ceroid lipofuscinosis epilepsy CLN5 neurodegenerative disease next-generation sequencing |
| title | Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review |
| title_full | Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review |
| title_fullStr | Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review |
| title_full_unstemmed | Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review |
| title_short | Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review |
| title_sort | neuronal ceroid lipofuscinosis type 5 in russia first case report and literature review |
| topic | neuronal ceroid lipofuscinosis epilepsy CLN5 neurodegenerative disease next-generation sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full |
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