Article
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2014
Chiba Yoichi, Komori Hiraku, Takei Shiro, Hasegawa-Ishii Sanae, Kawamura Noriko, Adachi Kaori, Nanba Eiji, Hosokawa Masanori, Enokido Yasushi, Kouchi Zen, Yoshida Futoshi, Shimada Atsuyoshi
Abstract excerpt
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder. Two disease-causing genes (NPC1 and NPC2) have been identified. NPC is characterized by neuronal and glial lipid storage and NFTs. Here, we report a man with juvenile-onset progressive neurological deficits, including pyramidal signs, ataxia, bulbar palsy, vertical supranuclear ophthalmoplegia, and psychiatric...
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