Familial spastic paraparesis (FSP) is a degenerative disorder of the central motor system characterized by progressive spasticity of the lower limbs. Pure and complicated forms have been described. The latter are rare and usually transmitted in an autosomal recessive pattern. Few cases of complicated HSP associated with epilepsy have been reported in the literature. Here we report a family from Southern Italy in which 2 members, a brother and a sister, are affected by complicated HSP. A neurological examination was conducted in all 5 living members of the pedigree, including EEC recordings, genetic analysis and in the 2 of them affected, neuropsycological tests such as the Wechsler Adult Intellgence Scale (WAIS-R) to determine verbal and nonverbal IQs (IQ total score of patient 1 = 74; IQ total score of patient 2=71). Both of them were diagnosed with HSP when they were 15 years old and the girl, the older one, developed complex partial seizures when she was 24 with EEG evidence of isolated right temporal sharp waves and diffuse sharp waves during hyperventilation. The boy, who is 23, had no clinical evidence of seizures; his EEG showed bilateral fronto-central paroxysmal activity. In our patients the association of HSP and epilepsy seems to be age related. Moreover, the emergence of epilepsy should be considered as a possible risk in complicated HSP, by means of EEG recordings, even in the absence of clinical manifestation at the beginning of the disease.
|Issue number||4 SUPPL.|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Clinical Neurology