Study Detail

TitleIdentification of autosomal recessive spastic paraplegia with cerebellar ataxia and neuropathy
Study TypeExome Sequencing
Abstract Objective: To identify the gene mutation responsible for a family presenting spastic paraplegia, cerebellar ataxia and neuropathy with autosomal recessive transmission. Background: Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative disea .. [more]
Description
Center NameJICHI_MED