biostudies-literatureUnknown8(2)Rossi S<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</Neurology. Geneticse664https://www.ebi.ac.uk/biostudies/studies/S-EPMC8969300biostudies-literatureClinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.PMC8969300Dotti MTRiso VSantorelli FMStefan CRossi SDal Fabbro BBarghigiani MCioffi ERomano SMignarri ATessa ATrovato RCereda CNicita FTravaglini LUlgheri LBertini EMusumeci OBassi MTPegoraro EMartinuzzi ASilvestri GGioiosa VRumore RRizzo GScarlato MMoroni RCriscuolo COrlacchio AOrsi LVazza GSampaolo SCasali CBattini RPetrucci AStraccia GDiamanti LOrologio ILiguori RRubegni ADato CMassa RSeri MDi Muzio APlumari MD'Angelo MGFilla AMelone MABRicca IfalseClinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.<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</2022-01-01T00:00:00Z2022 Apr2025-04-22T10:52:45.079Z2024-11-19T21:19:15.146ZS-EPMC89693003537268410.1212/NXG.0000000000000664