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

Area of Science:

• Neurology
• Urology
• Genetics

Background:

• Hereditary spastic paraplegias (HSP) are a group of inherited neurological disorders.
• Bladder dysfunction is a common but understudied complication of HSP.

Purpose of the Study:

• To characterize the urodynamic profiles of patients with HSP.
• To investigate the development and timing of bladder symptoms in relation to motor deficits in HSP.

Main Methods:

• A multicentric retrospective study involving 122 patients with HSP and bladder disorders.
• Review of medical and urodynamic records, including age of onset for gait and bladder symptoms, and disability stage.

Main Results:

• The most common urodynamic findings were detrusor overactivity (72.1%) and detrusor-sphincter dyssynergia (65.3%).
• Motor disorder onset (median 49.3 years) preceded bladder dysfunction onset (median 29.7 years).
• Urinary symptoms developed later in SPAST gene mutation carriers compared to non-SPAST groups relative to spasticity onset.

Conclusions:

• The prevalent urodynamic pattern in HSP aligns with upper motor neuron lesions.
• Urinary disorders in HSP are secondary to spastic gait and become more frequent as walking ability declines.