{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8(2)"],"submitter":["Rossi S"],"pubmed_abstract":["<h4>Background and objectives</h4>Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability.<h4>Methods</h4>A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed.<h4>Results</"],"journal":["Neurology. Genetics"],"pagination":["e664"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8969300"],"repository":["biostudies-literature"],"pubmed_title":["Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network."],"pmcid":["PMC8969300"],"pubmed_authors":["Dotti MT","Riso V","Santorelli FM","Stefan C","Rossi S","Dal Fabbro B","Barghigiani M","Cioffi E","Romano S","Mignarri A","Tessa A","Trovato R","Cereda C","Nicita F","Travaglini L","Ulgheri L","Bertini E","Musumeci O","Bassi MT","Pegoraro E","Martinuzzi A","Silvestri G","Gioiosa V","Rumore R","Rizzo G","Scarlato M","Moroni R","Criscuolo C","Orlacchio A","Orsi L","Vazza G","Sampaolo S","Casali C","Battini R","Petrucci A","Straccia G","Diamanti L","Orologio I","Liguori R","Rubegni A","Dato C","Massa R","Seri M","Di Muzio A","Plumari M","D'Angelo MG","Filla A","Melone MAB","Ricca I"],"additional_accession":[]},"is_claimable":false,"name":"Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.","description":"<h4>Background and objectives</h4>Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability.<h4>Methods</h4>A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed.<h4>Results</","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-22T10:52:45.079Z","creation":"2024-11-19T21:19:15.146Z"},"accession":"S-EPMC8969300","cross_references":{"pubmed":["35372684"],"doi":["10.1212/NXG.0000000000000664"]}}