| Main clinical features
|
slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood
spastic gait at about 3 years of age; in late childhood, they had difficulty walking with support associated to cerebellar signs, nystagmus, and clonus; brain MRI was normal or with mild atrophy of the corpus callosum and cerebellum
also spastic dysarthria, distal leg atrophy, and impaired distal vibration sensation, suggesting a peripheral neuropathy |