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Published on: November 3, 2016
Hereditary spastic paraplegia initially diagnosed as cerebral palsy
Oksana Suchowersky1, Setareh Ashtiani2, Ping-Yee Billie Au2
1University of Alberta, Departments of Medicine (Neurology) and Medical Genetics, Edmonton, Canada.
Insights
Many children with hereditary spastic paraplegia (HSP) are initially misdiagnosed with cerebral palsy (CP). Early spastic diplegia in infants warrants consideration of HSP for accurate diagnosis, prognosis, and management.
Area of Science:
- Neurogenetics
- Pediatric Neurology
Background:
- Spastic diplegia in infancy is a common presentation for both cerebral palsy (CP) and hereditary spastic paraplegia (HSP).
- Distinguishing between CP and HSP in early childhood can be challenging.
- This study investigates a cohort of patients initially diagnosed with CP who were later identified as having HSP.
Purpose of the Study:
- To identify the clinical and genetic features of hereditary spastic paraplegia (HSP) in a cohort of patients initially diagnosed with cerebral palsy (CP).
- To evaluate the diagnostic yield of whole exome sequencing (WES) in these cases.
- To highlight the importance of considering HSP in infants presenting with spastic diplegia.
Main Methods:
- Chart review of 14 patients from an Alberta registry of HSP patients with an initial CP diagnosis.
- Whole exome sequencing (WES) was performed to identify genetic causes.
- Analysis of clinical presentation, symptom progression, and family history.
Main Results:
- Of 90 families with pediatric spasticity, 14 initially received a CP diagnosis.
- Whole exome sequencing identified pathogenic mutations in six genes (ATL1, PLP1, PNPLA6, SACS, SPAST, SYNE1) in nine cases.
- In five families, WES was inconclusive, but symptom progression and family history suggested HSP.
Conclusions:
- Approximately 70% of HSP cases presenting with spasticity under three years of age were misdiagnosed as CP in this cohort.
- HSP should be considered in young children with spastic diplegia, especially without clear risk factors like prematurity or infection.
- Accurate diagnosis of HSP is crucial for appropriate prognosis, management strategies, and genetic counseling regarding recurrence risk.
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.
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