Spastic paraplegia with juvenile onset optic neuropathy|

Abstract

Hereditary Spastic Paraparesis (HSP) represents a group of genetically determined heterogeneous diseases. Mutations in the SPG7 (Paraplegin) gene, are responsible for a wide range of clinical presentations, varying from an autosomal recessive form of HSP to a form of ADON (Autossomal Dominant Optic Neuropathy), whose clinical characteristics are physiologically based on mitochondrial dysfunction. The impact of optic involvement clinically determined or revealed by supplementary diagnostic means as a clinical biomarker of HSP7 is to be valued. We present a case report of a 23 year-old, caucasian male with a childhood-onset progressive spastic paraplegia with juvenile-onset rapidly progressive severe optic neuropathy. We aim to highlight the importance of a complete ophthalmological evaluation when a facing a probable neurodegenerative disorder consistent with HSP, in order to correctly characterize the underlying clinical syndrome and efficiently request supplementary diagnostic exams