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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 8/2020

01-08-2020 | Spastic Paraplegia | Scientific Letter

Spastic Paraplegia Type 56 in a Young Child

Authors: Sukla Samaddar, Parneet Kaur, K. V. Rajagopal, Katta Mohan Girisha, Anju Shukla, Suvasini Sharma

Published in: Indian Journal of Pediatrics | Issue 8/2020

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Excerpt

To the Editor: Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse neurodegenerative disorders. CYP2U1-related SPG (spastic paraplegia 56, MIM# 615030) is a recently identified type of SPG characterised by early onset spastic paraparesis with dystonia, intellectual disability, and variable neuroimaging findings [1]. …
Literature
1.
Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012;91:1051–64.CrossRef
2.
Durand CM, Dhers L, Tesson C, et al. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Hum Mutat. 2018;39:140–51.CrossRef
3.
Minase G, Miyatake S, Nabatame S, et al. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. J Hum Genet. 2017;62:997–1000.CrossRef
4.
Kamate M, Detroja M. Clinico-investigative profile of hereditary spastic paraplegia in children. Ann Indian Acad Neurol. 2019;22:341–4.CrossRef
Metadata
Title
Spastic Paraplegia Type 56 in a Young Child
Authors
Sukla Samaddar
Parneet Kaur
K. V. Rajagopal
Katta Mohan Girisha
Anju Shukla
Suvasini Sharma
Publication date
01-08-2020
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 8/2020
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-020-03195-1

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