SPG4 and Dementia: Expanding the Clinical Spectrum

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Authors

Emanuele Panza · Azienda USL di Bologna

Arun Meyyazhagan · University of Perugia

Eliseo Picchi · University of Rome Tor Vergata

Gustavo Ribas · Universidade Federal do Paraná

Ingrid Faber · Universidade de Brasília

Ryosuke Miyamoto · Tokushima University

Preethi Basavaraju ·

Abstract

In this study, we investigated pathogenic SPG4/SPAST variants in an international cohort of HSP patients from three continents. Our findings expand the clinical spectrum of HSP-SPG4, identifying a new type complicated by an atypical pathological form of dementia. Careful assessment of genotype-phenotype relationships offers insights into patient counseling and future research planning.

Topics & Keywords

Hereditary Neurological Disorders Systemic Sclerosis and Related Diseases Dupuytren's Contracture and Treatments

UN Sustainable Development Goals

Partnerships for the goals

Publication Details

Published in: Annals of Clinical and Translational Neurology

DOI: 10.1002/acn3.70371

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