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Article

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

Journal of human genetics - 1 Nov 2017

Minase Gaku, Miyatake Satoko, Nabatame Shin, Arai Hiroshi, Koshimizu Eriko, Mizuguchi Takeshi, Nakashima Mitsuko, Miyake Noriko, Saitsu Hirotomo, Miyamoto Toshinobu, Sengoku Kazuo, Matsumoto Naomichi

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features...

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PMID: 28725025
DOI: 10.1038/jhg.2017.77

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