A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

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.

Aggressive behaviour at a residential epilepsy centre.

There is an extensive literature on epilepsy and violence, but no study has addressed aggression (i.e. apparently intentional violence) in a residential-care population. We performed a retrospective study at the Chalfont Centre for Epilepsy (a residential-care facility in rural Buckinghamshire) in order to determine the frequency and character of episodes of aggression. This allowed us to identify a group of aggressive subjects who were compared with age- and sex-matched control subjects drawn from the remaining residents. We found the prevalence of aggression to be 27.2% in 1 year amongst long-term residents. The overall frequency was estimated at between 121 and 207 incidents per 100 persons per year. A few incidents (0.7%) were related to an acute psychosis but they were more likely to result in significant injury. Offenders were younger than non-aggressive residents. Gender, age of onset of epilepsy, history of psychosis, mobility, abnormality on MRI scan, learning disability and seizure frequency were not associated with aggressive conduct.