Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11

L. Siri, F. M. Battaglia, A. Tessa, A. Rossi, M. Di Rocco, S. Facchinetti, M. Mascaretti, F. M. Santorelli, E. Veneselli, R. Biancheri

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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.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalNeuropediatrics
Volume41
Issue number1
DOIs
Publication statusPublished - 2010

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Keywords

  • corpus callosum
  • hereditary spastic paraplegia
  • SPG11

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology
  • Medicine(all)

Cite this

Siri, L., Battaglia, F. M., Tessa, A., Rossi, A., Rocco, M. D., Facchinetti, S., Mascaretti, M., Santorelli, F. M., Veneselli, E., & Biancheri, R. (2010). Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11. Neuropediatrics, 41(1), 35-38. https://doi.org/10.1055/s-0030-1253352