Psychiatric Disorders in Alzheimer Disease With the Presenilin-1 L226F Mutation.
Journal
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
ISSN: 1543-3641
Titre abrégé: Cogn Behav Neurol
Pays: United States
ID NLM: 101167278
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
entrez:
2
12
2020
pubmed:
3
12
2020
medline:
20
2
2021
Statut:
ppublish
Résumé
The presenilin-1 (PSEN1) L226F mutation has been linked to very early onset of prominent behavioral and psychiatric disturbances followed by cognitive decline within a few years. We report a novel case of early-onset Alzheimer disease that was originally diagnosed as psychotic depression in a patient with this gene mutation. We also compare our patient's clinical data to those of other cases of this mutation that have been described in the literature. Because atypical behavioral and psychiatric disturbances in young (<40 years) individuals can herald Alzheimer disease, a tight collaboration between psychiatrists and neurologists is crucial for an early diagnosis.
Identifiants
pubmed: 33264156
doi: 10.1097/WNN.0000000000000249
pii: 00146965-202012000-00006
doi:
Substances chimiques
Presenilin-1
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
278-282Références
Bagyinszky E, Park SA, Kim HJ, et al. 2016. PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea. Clin Interv Aging. 11:1433–1440. doi:10.2147/CIA.S111821
doi: 10.2147/CIA.S111821
Bateman RJ, Aisen PS, De Strooper B, et al. 2011. Autosomal-dominant Alzheimer’s disease: a review and proposal for the prevention of Alzheimer’s disease. Alzheimers Res Ther. 3:1. doi:10.1186/alzrt59
doi: 10.1186/alzrt59
Blauwendraat C, Wilke C, Simón-Sánchez J, et al. 2018. The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 20:240–249. doi:10.1038/gim.2017.102
doi: 10.1038/gim.2017.102
Cho H, Seo SW, Kim J-H, et al. 2013. Amyloid deposition in early onset versus late onset Alzheimer’s disease. J Alzheimers Dis. 35:813–821. doi:10.3233/JAD-121927
doi: 10.3233/JAD-121927
Gómez-Tortosa E, Barquero S, Barón M, et al. 2010. Clinical–genetic correlations in familial Alzheimer’s disease caused by presenilin 1 mutations. J Alzheimers Dis. 19:873–884. doi:10.3233/JAD-2010-1292
doi: 10.3233/JAD-2010-1292
Gosche KM, Mortimer JA, Smith CD, et al. 2002. Hippocampal volume as an index of Alzheimer neuropathology: findings from the Nun study. Neurology. 58:1476–1482. doi:10.1212/wnl.58.10.1476
doi: 10.1212/wnl.58.10.1476
Jack CR Jr, Albert M, Knopman DS, et al. 2011. Introduction to Revised Criteria for the Diagnosis of Alzheimer’s Disease: National Institute on Aging and the Alzheimer Association Workgroups. Alzheimers Dement. 7:257–262. doi:10.1016/j.jalz.2011.03.004
doi: 10.1016/j.jalz.2011.03.004
Johnson KA, Minoshima S, Bohnen NI, et al. 2013. Appropriate use criteria for amyloid PET: a report of the Amyloid Imaging Task Force, the Society of Nuclear Medicine and Molecular Imaging, and the Alzheimer’s Association. J Nucl Med. 54:476–490. doi:10.2967/jnumed.113.120618
doi: 10.2967/jnumed.113.120618
Karlstrom H, Brooks WS, Kwok JB, et al. 2008. Variable phenotype of Alzheimer’s disease with spastic paraparesis. J Neurochem. 104:573–583. doi:10.1111/j.1471-4159.2007.05038.x
doi: 10.1111/j.1471-4159.2007.05038.x
Klunk WE, Price JC, Mathis CA, et al. 2007. Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J Neurosci. 27:6174–6184. doi:10.1523/JNEUROSCI.0730-07.2007
doi: 10.1523/JNEUROSCI.0730-07.2007
Lleò A, Berezovska O, Growdon JH, et al. 2004. Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations. Am J Geriatr Psychiatry. 12:146–156.
Measso G, Cavarzeran F, Zappalà G, et al. 1993. The Mini-Mental State Examination: normative study of an Italian random sample. Dev Neuropsychol. 9:77–85. doi:10.1080/87565649109540545
doi: 10.1080/87565649109540545
Raux G, Gantier R, Thomas-Anterion C, et al. 2000. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 55:1577–1578. doi:10.1212/wnl.55.10.1577
doi: 10.1212/wnl.55.10.1577
Ringman JM, Goate A, Masters CL, et al. 2014. Genetic heterogeneity in Alzheimer disease and implications for treatment strategies. Curr Neurol Neurosci Rep. 14:499. doi:10.1007/s11910-014-0499-8
doi: 10.1007/s11910-014-0499-8
Riudavets MA, Bartoloni L, Troncoso JC, et al. 2013. Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. Brain Pathol. 23:595–600. doi:10.1111/bpa.12051
doi: 10.1111/bpa.12051
Ryman DC, Acosta-Baena N, Aisen PS, et al. 2014. Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. Neurology. 83:253–260. doi:10.1212/WNL.0000000000000596
doi: 10.1212/WNL.0000000000000596
Um YH, Choi WH, Jung WS, et al. 2017. A case report of a 37-year-old Alzheimer’s disease patient with prominent striatum amyloid retention. Psychiatry Investig. 14:521–524. doi:10.4306/pi.2017.14.4.521
doi: 10.4306/pi.2017.14.4.521
Zekanowski C, Golan MP, Krzyśko KA, et al. 2006. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol. 200:82–88. doi:10.1016/j.expneurol.2006.01.022
doi: 10.1016/j.expneurol.2006.01.022