Abstract
OBJECTIVES: There are at least three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia (ADPSP). Lower urinary tract symptoms are often present but have not been described in a homogeneous patient population. In this study lower urinary tract symptoms, cystometrical, and neurophysiological characteristics are described in patients with ADPSP linked to chromosome 2p21-p24. METHODS: Lower urinary tract symptoms were recorded at an interview and according to a formalised questionnaire. Eleven patients were clinically evaluated and cystometry, measurements of the cutaneous perception threshold, bulbocavernosus reflex latency, and somatosensory evoked potentials (SSEPs) of the pudendal nerve were performed. RESULTS: All patients experienced urinary urgency or urge incontinence. Rectal urgency and sexual dysfunction were reported by most patients. The cystometrical findings showed a mixed pattern of bladder dysfunction. The SSEPs were normal in all but the bulbocavernosus reflex latency was significantly prolonged in seven patients and the cutaneous perception threshold was raised in five patients. CONCLUSIONS: Lower urinary tract symptoms and probably also bowel and sexual dysfunction in patients with ADPSP linked to chromosome 2p21-p24 are due to a combination of somatic and autonomic nervous system involvement which support the proposed multisystem affection in ADPSP linked to chromosome 2p21-p24.