Hereditary spastic paraplegia initially diagnosed as cerebral palsy

Introduction: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP. Methods: Fourteen patients wi...

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Autores principales:	Oksana Suchowersky, Setareh Ashtiani, Ping-Yee Billie Au, Scott McLeod, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Spastic diplegia Cerebral palsy Genetics Exome sequencing Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/9fb98f4cf33f4a0ca461d724ff020d7e
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spelling	oai:doaj.org-article:9fb98f4cf33f4a0ca461d724ff020d7e2021-11-12T04:46:39ZHereditary spastic paraplegia initially diagnosed as cerebral palsy2590-112510.1016/j.prdoa.2021.100114https://doaj.org/article/9fb98f4cf33f4a0ca461d724ff020d7e2021-01-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2590112521000268https://doaj.org/toc/2590-1125Introduction: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP. Methods: Fourteen patients with an initial diagnosis of CP were identified from an Alberta registry of HSP patients via chart review. Whole exome sequencing (WES) was performed to identify genetic causes. Results: From 90 families in the database, individuals in 29 families had a pediatric presentation of spasticity, with 20 presenting under 3 years of age. Individuals from 14 families had received an initial diagnosis of CP and correct diagnosis was made after neurogenetic assessment due to symptom progression. All had early onset (<3 years) of symptoms. WES identified pathogenic or likely pathogenic mutations in nine cases involving six genes: ATL1, PLP1, PNPLA6, SACS, SPAST, and SYNE1. In five families, WES did not reveal a genetic etiology but progression of symptoms and positive family history suggests HSP is the most likely diagnosis. Conclusion: In our cohort, 70% of HSP children presenting with spasticity under 3 years had been misdiagnosed with CP. In a young child presenting with spastic diplegia without clear history of prematurity, intrauterine growth restriction, infection or vascular insult, it is important to consider HSP. Accurate diagnosis has implications for prognosis, management, and recurrence risk.Oksana SuchowerskySetareh AshtianiPing-Yee Billie AuScott McLeodMehrdad A. EstiarZiv Gan-OrGuy A. RouleauElsevierarticleSpastic diplegiaCerebral palsyGeneticsExome sequencingNeurology. Diseases of the nervous systemRC346-429ENClinical Parkinsonism & Related Disorders, Vol 5, Iss , Pp 100114- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Spastic diplegia Cerebral palsy Genetics Exome sequencing Neurology. Diseases of the nervous system RC346-429
spellingShingle	Spastic diplegia Cerebral palsy Genetics Exome sequencing Neurology. Diseases of the nervous system RC346-429 Oksana Suchowersky Setareh Ashtiani Ping-Yee Billie Au Scott McLeod Mehrdad A. Estiar Ziv Gan-Or Guy A. Rouleau Hereditary spastic paraplegia initially diagnosed as cerebral palsy
description	Introduction: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP. Methods: Fourteen patients with an initial diagnosis of CP were identified from an Alberta registry of HSP patients via chart review. Whole exome sequencing (WES) was performed to identify genetic causes. Results: From 90 families in the database, individuals in 29 families had a pediatric presentation of spasticity, with 20 presenting under 3 years of age. Individuals from 14 families had received an initial diagnosis of CP and correct diagnosis was made after neurogenetic assessment due to symptom progression. All had early onset (<3 years) of symptoms. WES identified pathogenic or likely pathogenic mutations in nine cases involving six genes: ATL1, PLP1, PNPLA6, SACS, SPAST, and SYNE1. In five families, WES did not reveal a genetic etiology but progression of symptoms and positive family history suggests HSP is the most likely diagnosis. Conclusion: In our cohort, 70% of HSP children presenting with spasticity under 3 years had been misdiagnosed with CP. In a young child presenting with spastic diplegia without clear history of prematurity, intrauterine growth restriction, infection or vascular insult, it is important to consider HSP. Accurate diagnosis has implications for prognosis, management, and recurrence risk.
format	article
author	Oksana Suchowersky Setareh Ashtiani Ping-Yee Billie Au Scott McLeod Mehrdad A. Estiar Ziv Gan-Or Guy A. Rouleau
author_facet	Oksana Suchowersky Setareh Ashtiani Ping-Yee Billie Au Scott McLeod Mehrdad A. Estiar Ziv Gan-Or Guy A. Rouleau
author_sort	Oksana Suchowersky
title	Hereditary spastic paraplegia initially diagnosed as cerebral palsy
title_short	Hereditary spastic paraplegia initially diagnosed as cerebral palsy
title_full	Hereditary spastic paraplegia initially diagnosed as cerebral palsy
title_fullStr	Hereditary spastic paraplegia initially diagnosed as cerebral palsy
title_full_unstemmed	Hereditary spastic paraplegia initially diagnosed as cerebral palsy
title_sort	hereditary spastic paraplegia initially diagnosed as cerebral palsy
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/9fb98f4cf33f4a0ca461d724ff020d7e
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Hereditary spastic paraplegia initially diagnosed as cerebral palsy

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