Spastic paraplegia leading PSEN1‐related familial Alzheimer’s disease in Italy

The outcomes of this study increase the clinical and mutational landscape associated with PSEN1-related familial AD. Expanding results of different populations, we strongly recommend PSEN1 genetic testing in affected subjects having SP with no variants in known HSP-related genes, mostly when linked with a family history of AD.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2024-12-01
DOI
https://doi.org/10.1002/alz.089719
Primary Topic
Cerebrovascular and genetic disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Spastic paraplegia leading PSEN1‐related familial Alzheimer’s disease in Italy

Emanuele Panza, Antonio Orlacchio, Arun Meyyazhagan, Toshitaka Kawarai et al.
Alzheimer s & Dementia
Cerebrovascular and genetic disorders
article

Spastic paraplegia leading PSEN1‐related familial Alzheimer’s disease in Italy

Emanuele Panza, Antonio Orlacchio, Arun Meyyazhagan, Toshitaka Kawarai, Preethi Basavaraju, Marialuisa Miele
article en

Abstract

The outcomes of this study increase the clinical and mutational landscape associated with PSEN1-related familial AD. Expanding results of different populations, we strongly recommend PSEN1 genetic testing in affected subjects having SP with no variants in known HSP-related genes, mostly when linked with a family history of AD.

Alzheimer s & DementiaVol. 20(S1)
Bharathiar University (IN), University of Perugia (IT), Azienda Ospedaliero Universitaria San Giovanni Battista (IT), Azienda USL di Bologna (IT), Himeji Medical Center (JP), Fondazione Santa Lucia (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), University of Bologna (IT)
Openalex Percentile: Top 62%
Cerebrovascular and genetic disorders
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Spastic paraplegia leading PSEN1‐related familial Alzheimer’s disease in Italy — Emanuele Panza, Antonio Orlacchio, et al. · Alzheimer s & Dementia (2024) | TGRS Research Map | TGRS