Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study

• Published in: European journal of neurology 2025-01, Vol.32 (1), p.e70003
• Main Authors: Lallemant-Dudek, Pauline, Guillaud-Bataille, Marine, Hentzen, Claire, Joussain, Charles, Pichon, Bertrand, Robain, Gilberte, Haddad, Rebecca, Coarelli, Giulia, Heinzmann, Anna, Denys, Pierre, Amarenco, Gérard, Durr, Alexandra
• Format: Article
• Language: English
• Subjects: Adult; Age of Onset; Aged; Female; Humans; Male; Middle Aged; Mutation; Retrospective Studies; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - physiopathology; Urinary Bladder Diseases - genetics; Urinary Bladder Diseases - physiopathology; Urodynamics
• ISSN: 1468-1331; 1468-1331
• DOI: 10.1111/ene.70003

The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development of bladder symptoms. This is a multicentric retrospective study which included patients presenting with bladder disorders. We reviewed medical and urodynamic records in individuals with HSP and recorded age at onset of gait and bladder disorders, disability stage at the time of urodynamic assessment. We included 122 participants. They were mostly men (n = 74) with a median age at interview of 54.6 ± 13.0 [25-76] years. The underlying genetic cause was identified in 70% of participants, with 54 heterozygous mutations in SPAST, followed by 7 SPG11 and 6 SPG7. The age at onset of motor disorder was significantly younger than for the beginning of bladder dysfunction (49.3 vs. 29.7 years-old, p