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Alzheimer disease familial 3, with spastic paraparesis

MedGen UID:
864219
•Concept ID:
C4015782
•
Finding
Synonym: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
 
OMIM®: 104311

Recent clinical studies

Etiology

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.
Dumois-Petersen S, Gallegos-Arreola MP, Magaña-Torres MT, Perea-Díaz FJ, Ringman JM, Figuera LE
Am J Med Genet C Semin Med Genet 2020 Dec;184(4):1023-1029. Epub 2020 Dec 4 doi: 10.1002/ajmg.c.31865. PMID: 33274538
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A
J Alzheimers Dis 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292. PMID: 20157243

Diagnosis

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.
Doğan M, Eröz R, Tecellioğlu M, Gezdirici A, Çevik B, Barış İ
Curr Alzheimer Res 2022;19(3):223-235. doi: 10.2174/1567205019666220414101251. PMID: 35430993
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A
J Alzheimers Dis 2010;19(3):873-84. doi: 10.3233/JAD-2010-1292. PMID: 20157243
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
Hattori S, Sakuma K, Wakutani Y, Wada K, Shimoda M, Urakami K, Kowa H, Nakashima K
Neurosci Lett 2004 Sep 30;368(3):319-22. doi: 10.1016/j.neulet.2004.07.057. PMID: 15364419

Prognosis

PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L, Qin Y, Zhao YW, Zeng Q, Pan HX, Liu ZH, Sun QY, Xu Q, Tan JQ, Yan XX, Li JC, Tang BS, Guo JF
Neurobiol Aging 2022 Jul;115:70-76. Epub 2022 Apr 11 doi: 10.1016/j.neurobiolaging.2022.03.016. PMID: 35489321
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
Matsubara-Tsutsui M, Yasuda M, Yamagata H, Nomura T, Taguchi K, Kohara K, Miyoshi K, Miki T
Am J Med Genet 2002 Apr 8;114(3):292-8. doi: 10.1002/ajmg.10250. PMID: 11920851

Clinical prediction guides

PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment.
Jiang L, Qin Y, Zhao YW, Zeng Q, Pan HX, Liu ZH, Sun QY, Xu Q, Tan JQ, Yan XX, Li JC, Tang BS, Guo JF
Neurobiol Aging 2022 Jul;115:70-76. Epub 2022 Apr 11 doi: 10.1016/j.neurobiolaging.2022.03.016. PMID: 35489321
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.
Dumois-Petersen S, Gallegos-Arreola MP, Magaña-Torres MT, Perea-Díaz FJ, Ringman JM, Figuera LE
Am J Med Genet C Semin Med Genet 2020 Dec;184(4):1023-1029. Epub 2020 Dec 4 doi: 10.1002/ajmg.c.31865. PMID: 33274538
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
Sutovsky S, Smolek T, Turcani P, Petrovic R, Brandoburova P, Jadhav S, Novak P, Attems J, Zilka N
J Neural Transm (Vienna) 2018 Jun;125(6):965-976. Epub 2018 Feb 5 doi: 10.1007/s00702-018-1850-z. PMID: 29404783
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O, Supnet C, Liu H, Bezprozvanny I
J Alzheimers Dis 2010;21(3):781-93. doi: 10.3233/JAD-2010-100159. PMID: 20634584Free PMC Article
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.
Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T
Ann Neurol 2000 Nov;48(5):806-8. PMID: 11079548

Recent systematic reviews

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.
Shea YF, Chu LW, Chan AO, Ha J, Li Y, Song YQ
J Formos Med Assoc 2016 Feb;115(2):67-75. Epub 2015 Aug 31 doi: 10.1016/j.jfma.2015.08.004. PMID: 26337232

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