An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination-Reference-Cited by-同舟云学术

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

Published:2017-07-20 Issue:11 Volume:62 Page:997-1000
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201777.pdf

Reference11 articles.

1. Fink, J. K. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol. 126, 307–328 (2013).

2. Depienne, C., Stevanin, G., Brice, A. & Durr, A. Hereditary spastic paraplegias: an update. Curr. Opin. Neurol. 20, 674–680 (2007).

3. Fink, J. K. Hereditary spastic paraplegia. Curr. Neurol. Neurosci. Rep. 6, 65–76 (2006).

4. Tesson, C., Nawara, M., Salih, M. A., Rossignol, R., Zaki, M. S., Al Balwi, M. et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91, 1051–1064 (2012).

5. Citterio, A., Arnoldi, A., Panzeri, E., D'Angelo, M. G., Filosto, M., Dilena, R. et al. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J. Neurol. 261, 373–381 (2014).

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