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Urodynamic evaluation of patients with autosomal dominant purespastic paraplegia linked to chromosome 2p21-p24 |
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| Authors: | L Jensen T Gerstenberg E Kallestrup P Koefoed J Nordling J Nielsen |
| Affiliation: | Department of Urology, Herlev Hospital, University of Copenhagen, Denmark. |
| Abstract: | OBJECTIVES—There are at least threeclinically indistinguishable but genetically different types ofautosomal dominant pure spastic paraplegia (ADPSP). Lower urinary tractsymptoms are often present but have not been described in a homogeneouspatient population. In this study lower urinary tract symptoms,cystometrical, and neurophysiological characteristics are described inpatients with ADPSP linked to chromosome 2p21-p24. METHODS—Lower urinary tract symptoms were recordedat an interview and according to a formalised questionnaire. Elevenpatients were clinically evaluated and cystometry, measurements of thecutaneous perception threshold, bulbocavernosus reflex latency, andsomatosensory evoked potentials (SSEPs) of the pudendal nerve were performed. RESULTS—All patients experienced urinaryurgency or urge incontinence. Rectal urgency and sexual dysfunctionwere reported by most patients. The cystometrical findings showed amixed pattern of bladder dysfunction. The SSEPs were normal in all butthe bulbocavernosus reflex latency was significantlyprolonged in seven patients and the cutaneous perception threshold wasraised in five patients. CONCLUSIONS—Lower urinary tract symptoms andprobably also bowel and sexual dysfunction in patients with ADPSPlinked to chromosome 2p21-p24 are due to a combination of somatic andautonomic nervous system involvement which support the proposedmultisystem affection in ADPSP linked to chromosome 2p21-p24. |
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