title: Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11.
abstract: BACKGROUND
  Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature.
  
  
  METHODS
  Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of spasticity, ataxia, and cognitive impairment. The clinical severity and the degree of corpus callosum and cerebellar atrophy varied among the four affected individuals in the family. Genetic testing of the affected members revealed recessive mutations in the spatacsin gene, consistent with a diagnosis of SPG11.
  
  
  CONCLUSIONS
  We believe that the extent of corpus callosum thinning and cerebellar atrophy is correlated with disease severity in affected patients. The addition of extrapyramidal features in the most-affected members suggests that SPG11 exhibits considerable phenotypic heterogeneity.
authors.affiliation: Department of Molecular Neurosciences and MRC Centre for Neuromuscular Diseases, UCL-Institute of Neurology, Queen Square, London, UK.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Rajakulendran
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruiz
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden