{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nolasco GA"],"funding":["Instituto de Salud Carlos III","HORIZON EUROPE Health"],"pagination":["108-121"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12790158"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["<h4>Objective</h4>Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP. We describe five individuals from three unrelated families who meet the clinical criteria for cerebral palsy and carry biallelic SPAST variants. We aim to increase the clinical and genetic understanding of SPAST-related disorders and explore the underlying abnormal cellular mechanisms.<h4>Methods</h4>We performed comprehensive phenotyping and genetic analysis. In silico and functional studies were conducted using confocal microscopy on fibroblast cultures derived from carriers of the biallelic SPAST variants, a monoallelic SPAST "],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics."],"pmcid":["PMC12790158"],"funding_grant_id":["CP22/00141","101119924—BE‐LIGHT","101119924-BE-LIGHT","PI18/00101"],"pubmed_authors":["Roldan M","Armengol L","Karimiani EG","Martorell L","Codina A","Ramirez Almaraz ML","Shoeibi A","Muchart J","Boostani R","Ortez C","Nascimento A","Rodriguez RJ","Natera-de Benito D","Jamshidi Y","Georvasilis I","Urreizti R","Nolasco GA","Hernando-Davalillo C","Serrano M"],"additional_accession":[]},"is_claimable":false,"name":"Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.","description":"<h4>Objective</h4>Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP. We describe five individuals from three unrelated families who meet the clinical criteria for cerebral palsy and carry biallelic SPAST variants. We aim to increase the clinical and genetic understanding of SPAST-related disorders and explore the underlying abnormal cellular mechanisms.<h4>Methods</h4>We performed comprehensive phenotyping and genetic analysis. In silico and functional studies were conducted using confocal microscopy on fibroblast cultures derived from carriers of the biallelic SPAST variants, a monoallelic SPAST ","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-06T11:37:41.551Z","creation":"2026-05-30T03:07:36.015Z"},"accession":"S-EPMC12790158","cross_references":{"pubmed":["41000004"],"doi":["10.1002/acn3.70206"]}}