Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant-Reference-Cited by-同舟云学术

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Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant

Published:2023-11 Issue: Volume:454 Page:120846
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Romito Luigi Michele,Prioni Sara,Braccia Arianna,Catania Marcella,Elia Antonio Emanuele,Dondi Francesco,Lucchini Silvia,Bertagna Francesco,Piacentini Sylvie H.M.J.,Eleopra Roberto,Di Fede Giuseppe

Funder

Ministero della Salute

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference11 articles.

1. Molecular genetics of early-onset Alzheimer’s disease revisited;Cacace;Alzheimers Dement.,2016

2. PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca(2+) homeostasis;Fedeli;Autophagy.,2019

3. A possible pathogenic PSEN2 Gly56Ser mutation in a Korean patient with early-onset Alzheimer’s disease;Shim;Int. J. Mol. Sci.,2022

4. Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders;Cai;Clin. Interv. Aging,2015

5. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

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1. The pathogenicity ofPSEN2variants is tied to Aβ production and homology toPSEN1;2024-06-28

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