PMID: 9436729Jan 22, 1998Paper

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study

Journal of Neurology, Neurosurgery, and Psychiatry
J E NielsenS A Sørensen

Abstract

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. Sixty 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. The 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,...Continue Reading

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Citations

Jun 9, 2005·Journal of the Neurological Sciences·Kristin H ScheuerIan Law
Jun 18, 2005·Journal of the Neurological Sciences·L M JørgensenM Ravnborg
Aug 7, 2002·Journal of the Neurological Sciences·Christos ProukakisAndrew H Crosby
Nov 12, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·L N JensenJ E Nielsen
Jul 15, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·C McDermottP Shaw
Jul 24, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·D BönschJ Liepert
Feb 6, 2009·AJNR. American Journal of Neuroradiology·R HouraniB I Yamout
Jun 16, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Anthony P NicholasRussell L Margolis
Jun 2, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K H ScheuerJ E Nielsen
Jan 26, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M RousseauxW Daveluy
Feb 11, 1999·American Journal of Human Genetics·P HederaJ K Fink
Mar 31, 2006·Journal of the Neurological Sciences·Kristin H ScheuerIan Law
Jun 26, 2001·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J E NielsenA Fuglsang-Frederiksen
Oct 22, 2005·Annals of Neurology·Frans BrugmanLeonard H van den Berg
Oct 18, 2019·Frontiers in Neurology·Sue-Faye SiowCarolyn M Sue
Jan 26, 2005·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J E NielsenS A Sørensen
Aug 28, 2021·Brain Sciences·Parvathi Menon, Steve Vucic

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