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a MRC Prion
Unit, Imperial College at St Mary's Hospital, Norfolk Place,
London W2 1PG, UK, b National
Hospital for Neurology and Neurosurgery, Queen Square, London WC1N
3BG, UK, c University Department of Clinical Neurosciences,
Royal Free Campus, Royal Free and University College Medical School,
Rowland Hill Street, London NW3 2PF, UK, d Department
of Medical Genetics, St Georges's Hospital Medical School,
Cranmer Terrace, London SW17 0RE, UK
Correspondence to: Dr G T Plant gordon{at}plant.globalnet.co.uk
Received 2 February 2001 and in revised form 3 July 2001;
Accepted 6 July 2001
Hereditary spastic paraparesis (HSP) is a clinically and
genetically heterogeneous neurodegenerative disorder characterised by
progressive lower limb spasticity and weakness. Some forms have been
associated with white matter lesions and complex phenotypes. This study
was prompted by the diagnosis of multiple sclerosis (MS) in two sisters
from a large pedigree with hereditary spastic paraparesis. Twelve
affected members of the extended family were examined (MRI and EEG were
carried out and evoked potentials measured in five), and historical
information was obtained from six affected deceased persons. The
inherited disease phenotype was confirmed as autosomal dominant
hereditary spastic paraparesis associated with epilepsy in four
affected persons. None of the extended family had evidence of MS.
Genetic analysis of the family has shown linkage to chromosome 2p and
sequencing of the spastin gene has identified a 1406delT frameshift
mutation in exon 10. This kindred demonstrates the clinical
heterogeneity of HSP associated with spastin mutations. The possible
relevance of the concurrence of HSP and MS in the sib pair is discussed.
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