Cognitive Profile in Spastic Paraplegia with Thin Corpus Callosum and Mutations in SPG11

Abstract

Autosomal recessive hereditary spastic paraplegia with thinning of the anterior corpus callosum (ARHSP-TCC) due to mutations in SPG11 on chromosome 15q (MIM610844) is the single most common cause of ARHSP. It is characterized by slowly progressive paraparesis and peripheral neuropathy. Although cognitive impairment, sometimes diagnosed as mental retardation, is an almost invariable feature, the extent and specific neuropsychological features are not fully understood. We report a comprehensive neuropsychological assessment in two ARHSP-TCC patients harbouring mutations in SPG11. A specific impairment in executive functions occurring even before cognitive decline, may be considered the core of the neuropsychological profile of patients harbouring mutations in SPG11.

hereditary spastic paraplegia - SPG11 - corpus callosum

References

• 1 Anheim M, Lagier-Tourenne C, Stevanin G. et al . SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.  J Neurol. 2009;  256 104-108
• 2 Chen Q, Lui S, Wang JG. et al . Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum.  Neurosci Lett. 2008;  441 21-24
• 3 Denora PS, Schlesinger D, Casali C. et al . Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.  Hum Mutat. 2009;  30 E500-E519
• 4 Hehr U, Bauer P, Winner B. et al . Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.  Ann Neurol. 2007;  62 656-665
• 5 Kawai Y, Suenaga M, Watanabe H. et al . Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6.  J Neurol Sci. 2008;  271 68-74
• 6 Seidel K, De Vos R, Derksen L. et al . Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP).  Ann Anat. 2009;  191 203-211
• 7 Stevanin G, Santorelli FM, Azzedine H. et al . Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.  Nat Genet. 2007;  39 366-372
• 8 Stevanin G, Azzedine H, Denora P. et al . Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.  Brain. 2008;  131 772-784
• 9 Tallaksen CM, Guichart-Gomez E, Verpillat P. et al . Subtle cognitive impairment but no dementia in patients with spastin mutations.  Arch Neurol. 2003;  60 1113-1118
• 10 Winner B, Uyanik G, Gross C. et al . Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).  Arch Neurol. 2004;  61 117-121

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