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Article

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Journal of human genetics - 1 Feb 2022

Koh Kishin, Tsuchiya Mai, Ishiura Hiroyuki, Shimazaki Haruo, Nakamura Takeshi, Hara Hideo, Suzuyama Kohei, Takahashi Makio, Tsuji Shoji, Takiyama Yoshihisa

Abstract excerpt

Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by weakness and leg spasticity. LYST is responsible for Chédiak-Higashi syndrome (CHS), which exhibits partial oculocutaneous albinism, primary immunodeficiency, and bleeding tendency in childhood. Although neurological symptoms of CHS also appear in adulthood, a phenotype of spastic paraplegia has rarely been...

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PMID: 34483340
DOI: 10.1038/s10038-021-00977-z

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