Article
Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.
Brain & development - 1 Mar 2017
Kobayashi Yu, Tohyama Jun, Akiyama Tomoyuki, Magara Shinichi, Kawashima Hideshi, Akasaka Noriyuki, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound...
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