A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

Abstract

Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21.

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

“…These white matter changes have been reported before in the literature. 9,10,17,20 Loss of volume (thinning) and agenesis of the corpus callosum were seen in 10 out of 18 (55.5%) patients. Involvement of the corpus callosum was the second most common abnormality found by MRI in our patients.…”

“…21 Epilepsy was noted in 13 (17.5%) of our patients; 3 of them had a thin corpus callosum. 9,10 Different types of seizures have been associated with HSP. 5,21 In the current study, tonic-clonic seizures were found in 7 children, myoclonic in 4, and partial in two.…”

“…Cerebellar features may be seen at the onset of the disease or later on after progression of the disease. 5,9,10,17,20,22 In severe cases with spasticity and contractures, cerebellar features may be difficult to recognise. Cerebellar features were seen in 9 children (12.1%), although MRI scanning showed cerebellar atrophy in only one.…”

“…A genetic workup was done in the two large families who had been studied and reported earlier. 9,10 A second study, to define the underlying genetic changes for the rest of the children, is planned in the near future.…”

“…5,8 Previous data from Oman were limited to two reports of two large families involving 16 children with novel genetic mutations. 9,10 The present study describes clinical features of HSP in 74 children, including the previous study of 16 children in which a genetic work-up has already been done.…”