دورية أكاديمية
Clinical and molecular findings in a turkish family who had a (c.869- 1G>A) splicing variant in PSEN1 gene with a rare condition: the variant alzheimer's disease with spastic paraparesis
| العنوان: | Clinical and molecular findings in a turkish family who had a (c.869- 1G>A) splicing variant in PSEN1 gene with a rare condition: the variant alzheimer's disease with spastic paraparesis |
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| المؤلفون: | Doğan, Mustafa, Eröz, Recep, Tecellioğlu, Mehmet, Gezdirici, Alper, Çevik, Betül, Barış, İbrahim |
| المساهمون: | Tıp Fakültesi |
| بيانات النشر: | Bentham Science Publishers Ltd. |
| سنة النشر: | 2022 |
| المجموعة: | Aksaray University Institutional Repository (DSpace@Aksaray) |
| مصطلحات موضوعية: | Alzheimer's Disease, Early-onset, PSEN1, Dementia, Familial, Neurodegeneration, Presenilin 1, Spastic Paraparesis, Whole-exome Sequencing |
| الوصف: | Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5-10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion of cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (varAD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities and gait disturbance. Although the disease was first associated with variants in exon 9 of the PSEN1 gene, it was later shown that variations in other exons were also responsible for the disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | Current Alzheimer Research; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https:/dx.doi.org/10.2174/1567205019666220414101251; https://hdl.handle.net/20.500.12451/9501Test |
| DOI: | 10.2174/1567205019666220414101251 |
| الإتاحة: | https://doi.org/20.500.12451/9501Test https://doi.org/10.2174/1567205019666220414101251Test https://hdl.handle.net/20.500.12451/9501Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.D53ADCB3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.2174/1567205019666220414101251 |
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