Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11
Author(s) -
Sanjeev Rajakulendran,
Coro Paisán-Ruı́z,
Henry Houlden
Publication year - 2011
Publication title -
journal of clinical neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.208
H-Index - 45
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2011.7.2.102
Subject(s) - hereditary spastic paraplegia , corpus callosum , spasticity , spastic , atrophy , paraplegia , medicine , pathology , cerebellar ataxia , ataxia , phenotype , genetics , physical medicine and rehabilitation , biology , spinal cord , psychiatry , gene , cerebral palsy
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.
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