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Article

Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.

Neurourology and urodynamics - 1 Sept 2020

Manak Imerjit, Gurney Alison M, McCloskey Karen D, Woolf Adrian S, Roberts Neil A

Abstract excerpt

AIMS: Urofacial syndrome (UFS) is an autosomal recessive disease characterized by detrusor contraction against an incompletely dilated outflow tract. This dyssynergia causes dribbling incontinence and incomplete voiding. Around half of individuals with UFS have biallelic mutations of HPSE2 that encodes heparanase 2, a protein found in pelvic ganglia and bladder nerves. Homozygous Hpse2 mutant mice have abnormal...

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PMID: 32609936
DOI: 10.1002/nau.24450

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