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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Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Bentham Science Publishers Ltd.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Alzheimer's Disease, Early-onset, PSEN1, Dementia, Familial, Neurodegeneration, Presenilin 1, Spastic Paraparesis, Whole-exome Sequencing
Kaynak
Current Alzheimer Research
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
-
Sayı
-
