Spastic Paraplegia with SPG11 Gene delE39 in a Turkish Patient
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 SPG11 gene.
References
Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of neurology. 2004;61:117-21.
Samaranch L, Riverol M, Masdeu JC, Lorenzo E, Vidal-Taboada JM, Irigoyen J, et al. SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Neurology. 2008;71:332-6.
Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, et al. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Archives of neurology. 2006;63:756-60.
Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H. [Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum]. No to shinkei = Brain and nerve. 1994;46:941-7.
Everett CM, Kara E, Maresh KE, Houlden H. Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. Journal of neurology. 2012;259:2726-8.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation. 2009;30:E500-19.
Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A. Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family. Journal of child neurology. 2007;22:214-7.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, et al. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain : a journal of neurology. 2014;137(Pt 7):1907-20.
Cao L, Rong TY, Huang XJ, Fang R, Wu ZY, Tang HD, et al. Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum. Parkinsonism & related disorders. 2013;19:367-70.
