Genetically Proved Hereditary Spastic Paraplegia – A Case Report

Abstract To report a patient with Hereditary Spastic Paraplegia (HSP), with Ear of Lynx sign on MRI Brain and with genetic sampling showing SPG 28 (OMIM#609340) with a novel mutation and to hypothesize the possible relationship between the radiological finding with the disease and novel gene mutation of DDHD1(- ) (ENST00000673822.2) Exon 1, Variant c.306C>G (p.Tyr102Ter). Clinical, radiological and genetic report of a 55 year old patient with complaints of progressive lower limb weakness were described. This present case highlights the importance of novel gene mutation associated with Ear of Lynx sign on MRI, which is usually seen in SPG 11. Keywords: Hereditary Spastic Paraplegia; Ear of Lynx; SPG 28