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Spastic Paraplegia Type 56 in a Young Child

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  1. 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.

  2. 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.

  3. 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.

  4. 4.

    Kamate M, Detroja M. Clinico-investigative profile of hereditary spastic paraplegia in children. Ann Indian Acad Neurol. 2019;22:341–4.

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We thank the patient and his family for participating in this study. We also thank Department of Health Research, Ministry of Health and Family Welfare, Government of India for financial resources for this study (Grant ID Number V.25011/379/2015-GIA/HR, Dated- 30.08.2016).

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S Samaddar and S Sharma provided clinical care to the patient. PK, KMG and AS provided the genetic testing, its analysis and interpretation. RKV provided the radiological inputs. S Samaddar and PK drafted the manuscript which was critically revised and approved by all the authors. KMG is the guarantor for this paper.

Correspondence to Suvasini Sharma.

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Samaddar, S., Kaur, P., Rajagopal, K.V. et al. Spastic Paraplegia Type 56 in a Young Child. Indian J Pediatr (2020).

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