Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Musharraf Jelani, Saleem Ahmad, Nirmal Vadgama, Khadijah Bakur, Michael Simpson, Jumana Yousuf Al-Aama, Jamal Nasir
BACKGROUND: Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated where in addition to spasticity and weakness of lower extremeties, additional neurological symptoms are present, including dementia, loss of vision, epilepsy, mental retardation and ichthyosis. We identified a large consanguineous family of Indian descent with four affected members with childhood onset HSP (SPG54), presenting with upper and lower limb spasticity, mental retardation and agenesis of the corpus callosum...
2015: BMC Research Notes