Spastic Paraplegia with SPG11 Gene delE39 in a Turkish Patient

Zeynep Öztürk ,Cengiz Havali ,Ercan Demir ,Kıvılcım Gücüyener

doi:10.12996/gmj.2016.64

Abstract

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders leading to progressive spasticity of the lower limbs. HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. ARHSPwith thin corpus callosum (TCC) is a frequent subtype characterized by progressive spastic paraparesis, cognitive impairment and thin corpus callosum. We report a 16 years old male patient presented with weakness and paraplegia of lower limbs and mental retardation. He had near normal motor and mental development until 11 years of age, afterwards he had progressive cognitive and learning impairment also difficulty in walking. His neurological examination revealed hyperreflexia, increased tonus and severe sapasticity of lower extremities, contractures in toes, ankles and knees. He also had extensor plantar responses, bilateral pes cavus. His cranial MRI showed thin corpus callosum. His genetic test result showed delE39 in SPG 11 gene.

Highlights

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorders
Herditary spastic paraplegia with thin corpus callosum (HSP-TCC) (MIM 604360) is the most common type of complicated HSP characterized by slowly progressive spastic paraparesis and cognitive decline (2)
Remarkable thinning corpus callosum is detectable in brain magnetic resonance imaging (MRI)

Summary

INTRODUCTION

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorders. Remarkable thinning corpus callosum is detectable in brain magnetic resonance imaging (MRI) We report a 16 years old male patient presented with weakness and paraplegia of lower limbs and mental retardation and had SPG11 mutation. A sixteen year old boy born to a second degree consanguineous marriage was admitted to our clinic because of progressive bilateral weakness in lower extremities and cognitive impairment. He had near normal motor and mental development until the age of 11, afterwards he had progressive cognitive impairment, learning and walking difficuties which led him to walking with aid. For spasticity of lower extremities baclofen treatment has been started and an exercise programme planned by a physiotherapist

DISCUSSION

CONCLUSION