Premium
Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy
Author(s) -
Yamashita I.,
Sasaki H.,
Yabe I.,
Kikuchi S.,
Chin S.,
Fukazawa T.,
Okumura H.,
Tashiro K.
Publication year - 2000
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2000.102001065.x
Subject(s) - hereditary spastic paraplegia , corpus callosum , ataxia , paraplegia , medicine , atrophy , spastic , pathology , cerebellar ataxia , pediatrics , spinal cord , genetics , physical medicine and rehabilitation , biology , cerebral palsy , psychiatry , gene , phenotype
We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked in the other. Slight but definite atrophy of the corpus callosum and axonal neuropathy were demonstrated in 1 sibling who underwent detailed investigation. Review of similar cases reported in the literature indicates that this recessively inherited disorder probably represents a homogeneous group within the heterogeneous cluster of complicated FSP.