Extension of the Clinical and Genetic Spectrum in SPG4 Discloses a New Form of Alzheimer's Disease
In this study, we investigated pathogenic SPG4/SPAST variants in an international cohort of HSP patients from three continents. Our results extend the clinical spectrum of HSP-SPG4, discovering a new type complicated by an atypical form of AD. Cautious evaluation of genotype-phenotype relationships proposes insights into patient counseling and future research planning.
Authors
- Haripriya Kuchi Bhotla (ORCID: https://orcid.org/0000-0002-9997-6454)
- Ryosuke Miyamoto (ORCID: https://orcid.org/0000-0003-3639-6484)
- Mario Stasi (ORCID: https://orcid.org/0009-0005-8706-3139)
- Antonio Orlacchio (ORCID: https://orcid.org/0000-0002-7053-8813)
- Orlando Graziani Póvoas Barsottini (ORCID: https://orcid.org/0000-0002-0107-0831)
- Preethi Basavaraju (ORCID: https://orcid.org/0000-0001-7097-2276)
- José Luiz Pedroso (ORCID: https://orcid.org/0000-0002-1672-8894)
- Arun Meyyazhagan
- Eliseo Picchi (ORCID: https://orcid.org/0000-0002-2524-9764)
- MC Franca
- Ingrid Faber
- Gustavo Ribas
- Francesco Patti
- Peter Henry St George‐Hyslop
- Filippo Maria Santorelli
- Toshitaka Kawarai
- Hélio Afonso Ghizoni Teive
- Emanuele Panza
Institutions
- Bharathiar University (IN)
- University of Rome Tor Vergata (IT)
- Universidade de Brasília (BR)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- University of Perugia (IT)
- Columbia University Irving Medical Center (US)
- University of Catania (IT)
- Fondazione Stella Maris (IT)
- Himeji Medical Center (JP)
- Fondazione Santa Lucia (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Universidade Federal do Paraná (BR)
- Universidade Federal de São Paulo (BR)
- Tokushima University (JP)
- University of Bologna (IT)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz70855_102713
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00