Hereditary spastic paraplegia associated with thin corpus callosum

Arquivos de Neuro-Psiquiatria

Hélio A. Ghizoni Teive¹  Fabio Massaiti Iwamoto¹  Marcus Vinícius Della Coletta¹  Carlos Henrique Camargo¹  Ruth Danielle Bezerra¹  Guilberto Minguetti¹  Lineu Cesar Werneck¹ 

[1] ,Federal University of Paraná Hospital de Clínicas Division of NeurologyCuritiba PR ,Brazil

关键词: hereditary spastic paraplegia;    corpus callosum;    MRI;    paraplegia espástica hereditária;    corpo caloso;    ressonância magnética;   

DOI  :  10.1590/S0004-282X2001000500025

来源: SciELO

【 摘 要 】

Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.

【 授权许可】

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