Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study
These findings broaden the clinical and mutational spectrum of SPG4, underscoring the importance of considering SPAST gene analysis in patients with ASD in the early years of life and early motor delay, even in the presence of only subtle pyramidal signs. We advocate for comprehensive neuropsychiatric assessment in the diagnostic pathway of early-onset complex HSP presentations and support further investigation into the role of spastin in neuronal connectivity.
Authors
- Anna Pichiecchio (ORCID: https://orcid.org/0000-0002-5654-4088)
- Simona Orcesi (ORCID: https://orcid.org/0000-0001-8947-9342)
- Simone Gana (ORCID: https://orcid.org/0000-0001-6544-7135)
- Renato Borgatti (ORCID: https://orcid.org/0000-0001-8165-4994)
- Carlo Alberto Quaranta (ORCID: https://orcid.org/0000-0002-2076-8848)
- Alice Gardani
- Giulia Andorno
Institutions
- University of Pavia (IT)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3390/genes16080970
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute