Rapidly progressive dementia with early onset associated with the I143T mutation in the PSEN1 gene: a clinical case in a family from Russia
https://doi.org/10.14412/2074-2711-2023-2-63-67
Abstract
Rapidly progressive dementias are a rare group of cognitive disorders that primarily require the exclusion of a large number of potentially reversible causes. Prion diseases are frequent in this group of disorders. Some hereditary forms of Alzheimer's disease can also be aggressive, with onset at a young age and autosomal dominant inheritance in the family. The article presents the first case report of a patient with a verified Ile143Thr mutation in the PSEN1 gene in a Russian family with a phenotype similar to the hereditary form of Creutzfeldt–Jakob disease. The specific features of the disease, diagnostic methods, and possible pathogenesis of the development are discussed.
About the Authors
Yu. A. Shpilyukova
Research Centre of Neurology
Russian Federation
Competing Interests:
Russian Federation
80, Volokolamskoe Shosse, Moscow 125367
Competing Interests:
The investigation has not been sponsored. There are no conflicts of interest. The authors are solely responsible for submitting the final version of the manuscript for publication. All the authors have participated in developing the concept of the article and in writing the manuscript. The final version of the manuscript has been approved by all the authors.
A. O. Protopopova
Research Centre of Neurology
Russian Federation
Competing Interests:
Russian Federation
80, Volokolamskoe Shosse, Moscow 125367
Competing Interests:
The investigation has not been sponsored. There are no conflicts of interest. The authors are solely responsible for submitting the final version of the manuscript for publication. All the authors have participated in developing the concept of the article and in writing the manuscript. The final version of the manuscript has been approved by all the authors.
N. Yu. Abramycheva
Research Centre of Neurology
Russian Federation
Competing Interests:
Russian Federation
80, Volokolamskoe Shosse, Moscow 125367
Competing Interests:
The investigation has not been sponsored. There are no conflicts of interest. The authors are solely responsible for submitting the final version of the manuscript for publication. All the authors have participated in developing the concept of the article and in writing the manuscript. The final version of the manuscript has been approved by all the authors.
E. Yu. Fedotova
Research Centre of Neurology
Russian Federation
Competing Interests:
Russian Federation
80, Volokolamskoe Shosse, Moscow 125367
Competing Interests:
The investigation has not been sponsored. There are no conflicts of interest. The authors are solely responsible for submitting the final version of the manuscript for publication. All the authors have participated in developing the concept of the article and in writing the manuscript. The final version of the manuscript has been approved by all the authors.
S. N. Illarioshkin
Research Centre of Neurology
Russian Federation
Competing Interests:
Russian Federation
80, Volokolamskoe Shosse, Moscow 125367
Competing Interests:
The investigation has not been sponsored. There are no conflicts of interest. The authors are solely responsible for submitting the final version of the manuscript for publication. All the authors have participated in developing the concept of the article and in writing the manuscript. The final version of the manuscript has been approved by all the authors.
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For citations:
Shpilyukova YA, Protopopova AO, Abramycheva NY, Fedotova EY, Illarioshkin SN. Rapidly progressive dementia with early onset associated with the I143T mutation in the PSEN1 gene: a clinical case in a family from Russia. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2023;15(2):63-67. (In Russ.) https://doi.org/10.14412/2074-2711-2023-2-63-67
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