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Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Tanya F Panwala1, Rocio Garcia-Santibanez2, Joaquin A Vizcarra2
1Florida Atlantic University, Charles E. Schmidt College of Medicine, Boca Raton, Florida.
Insights
Childhood-onset hereditary spastic paraplegia (HSP) often presents with neurocognitive deficits and polyneuropathy. Whole-exome sequencing is crucial for diagnosing rare genetic causes of HSP.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Hereditary spastic paraplegia (HSP) is a group of rare genetic disorders affecting the corticospinal tract, leading to progressive lower limb spasticity and weakness.
- Published data on genetically confirmed pediatric HSP cases are limited, highlighting a need for further research.
Purpose of the Study:
- To review clinical characteristics, genetic etiologies, and comorbidities in a cohort of pediatric patients with hereditary spastic paraplegia.
- To evaluate the diagnostic utility of advanced genetic testing in childhood-onset HSP.
Main Methods:
- Retrospective review of 16 patients with childhood-onset HSP treated at Children's and Emory Healthcare.
- Data collected included clinical presentation, family history, neurological examination, electrodiagnostics, neuroimaging, genetic testing, comorbidities, and treatment outcomes.
Main Results:
- The cohort included 16 patients (8 male, 8 female) with a mean age of 19 years. Gait difficulty was the primary presenting symptom in 66% of patients.
- Genetic etiologies were confirmed in 16 patients, including SPAST, MARS, KIF1A, and others. Average time from symptom onset to genetic confirmation was 8.2 years.
- Comorbidities included sensory motor axonal polyneuropathy (44%), developmental delay (56%), autism (31%), epilepsy (19%), and ADHD (13%).
Conclusions:
- Childhood-onset HSP frequently involves neurocognitive deficits, polyneuropathy, and rare genetic causes.
- Whole-exome sequencing and genetic neuropathy panels are effective tools for establishing HSP diagnoses in pediatric patients.
Background:
Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive lower extremity spasticity and weakness caused by corticospinal tract degeneration. Published literature on genetically confirmed pediatric HSP cases is limited.
Methods:
We conducted a retrospective review of childhood-onset HSP cases followed in the neuromuscular clinics at Children's and Emory Healthcare in Atlanta. Clinical presentation, family history, examination, electrodiagnostic data, neuroimaging, genetic test results, comorbidities, and treatment were recorded.
Results:
Sixteen patients with HSP (eight males, eight females) with a mean age 19 years ± 15.7 years were included. Ten patients (66%) presented with gait difficulty. Seven (44%) were ambulatory at the last clinic follow-up visit with an average disease duration of 7.4 years. Genetically confirmed etiologies included SPAST (3 patients), MARS (2), KIF1A (2), KIF5A (1), SACS (1), SPG7 (1), REEP1 (1), PNPT1 (1), MT-ATP6 (1), and ATL1 (1). Symptom onset to genetic confirmation on an average was 8.2 years. Sensory motor axonal polyneuropathy was found in seven patients, and two exhibited cerebellar atrophy on magnetic resonance imaging (MRI) of the brain. Neurological comorbidities included developmental delay (n = 9), autism (n = 5), epilepsy (n = 3), and attention-deficit/hyperactivity disorder (n = 2).
Conclusions:
In our study, a significant proportion (70%) of subjects with childhood-onset HSP had comorbid neurocognitive deficits, polyneuropathy with or without neuroimaging abnormalities, and rare genetic etiology. Genetic diagnosis was established either through inherited genetic neuropathy panel or whole-exome sequencing, which supports the utility of whole-exome sequencing in aiding in HSP diagnosis.
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