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a Department of Urology, Herlev
Hospital, University of Copenhagen, Denmark, b Institute of Medical Biochemistry and Genetics, Department of
Medical Genetics, Section of Neurogenetics, University of Copenhagen,
Denmark
Correspondence to: Dr J E Nielsen, Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Section of Neurogenetics, The Panum Institute, Building 24.4, Blegdamsvej 3, DK-2200, Copenhagen N, Denmark. Telephone 0045 3532 7816; fax 0045 3532 7845; email jnielsen{at}medgen.imbg.ku.dk
Received 15 January 1998 and in revised form 5 March 1998;
Accepted 19 March 1998
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.
METHODSLower 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.
RESULTSAll 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.
CONCLUSIONSLower 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.
This article has been cited by other articles:
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  P JENNUM, L N. JENSEN, K FENGER, J E NIELSEN, and A FUGLSANG-FREDERIKSEN Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p J. Neurol. Neurosurg. Psychiatry, October 1, 2001; 71(4): 561 - 562. [Full Text]
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 P. C. Byrne, P. Mc Monagle, S. Webb, B. Fitzgerald, N. A. Parfrey, and M. Hutchinson Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p Neurology, April 11, 2000; 54(7): 1510 - 1517. [Abstract] [Full Text] [PDF]
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