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a Institute of Medical Biochemistry and Genetics,
Laboratory of Medical Genetics, Section of Neurogenetics, University of
Copenhagen, Denmark, b University Clinic of Neurology, Hvidovre Hospital, Copenhagen,
Denmark, c Danish Research Center of Magnetic
Resonance, Hvidovre Hospital, Denmark, d Department of Clinical Neurophysiology, Hvidovre
Hospital, Copenhagen, Denmark, e University
Clinic of Urology, Herlev Hospital, Denmark, f University Clinic of Neurology, Frederiksberg Hospital,
Denmark
Correspondence to: Dr J E Nielsen, Institute of Medical Biochemistry and Genetics, Laboratory 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 3139 3373; email: jnielsen{at}medgen.imbg.ku.dk
Received 2 September 1996 and in revised form 17 June 1997;
Accepted 30 June 1997
OBJECTIVES
At least three clinically
indistinguishable but genetically different types of autosomal dominant
pure spastic paraplegia (ADPSP) have been described. In this study the
clinical, genetic, neurophysiological, and MRI characteristics of ADPSP
were investigated.
METHODSSixty three at risk members from five
families were clinically evaluated. A diagnostic index was constructed
for the study. Microsatellite genotypes were determined for chromosomes
2p, 14q, and 15q markers and multipoint linkage analyses were
performed. Central motor conduction time studies (CMCT), somatosensory
evoked potential (SSEP) measurement, and MRI of the brain and the total spinal cord were carried out in 16 patients from four families.
RESULTSThe clinical core features of ADPSP were
homogeneously expressed in all patients but some features were only
found in some families and not in all the patients within the family.
In two families non-progressive "congenital" ADPSP was seen in some
affected members whereas adult onset progressive ADPSP was present in
other affected family members. As a late symptom not previously
described low backache was reported by 47%. Age at onset varied widely
and there was a tendency for it to decline in successive generations in
the families, suggesting anticipation. Genetic linkage analysis confined the ADPSP locus to chromosome 2p21-p24 in the five families. The lod scores obtained by multipoint linkage analysis were positive with a combined maximum lod score of Z=8.60. The neurophysiological studies only showed minor and insignificant prolongation of the central
motor conduction time and further that peripheral conduction and
integrity of the dorsal columns were mostly normal. Brain and the total
spinal cord MRI did not disclose any significant abnormalities compared
with controls.
CONCLUSIONSADPSP linked to chromosome
2p21-p24 is a phenotypic heterogeneous disorder characterised by both
interfamilial and intrafamilial variation. In some families the disease
may be "pure" but the existence of "pure plus" families is
suggested in others. The neurophysiological and neuroimaging
investigations did not show any major abnormalities.
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