Neuroimaging patterns in paediatric onset hereditary spastic paraplegias
Claudia Dosi1, Rosa Pasquariello1, Chiara Ticci1
1IRCCS Stella Maris Foundation, Calambrone, 56128 Pisa, Italy.
Journal of the Neurological Sciences
|April 18, 2021
Summary
Magnetic resonance imaging (MRI) can help diagnose hereditary spastic paraplegias (HSPs). Specific MRI patterns, like corpus callosum thinning, may indicate distinct genetic subtypes of this neurodegenerative disorder.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Hereditary spastic paraplegias (HSPs) are a diverse group of neurodegenerative disorders.
- They cause progressive lower limb spasticity and weakness with varied inheritance patterns (AR, AD, X-linked).
- Diagnosing HSPs is challenging due to clinical and genetic heterogeneity, despite advances in next-generation sequencing.
Purpose of the Study:
- To identify potential morphostructural magnetic resonance imaging (MRI) patterns.
- To determine if these MRI findings can guide genetic testing for specific HSP subtypes.
Main Methods:
- Retrospective analysis of MRI scans from a cohort of HSP patients.
- Correlation of imaging findings with known genetic subtypes.
- Detailed examination of white matter abnormalities and corpus callosum morphology.
Main Results:
- White matter abnormalities were the most frequent MRI finding in HSP patients.
- Corpus callosum thinning was observed, with distinct characteristics varying by HSP subtype.
- MRI findings showed potential to differentiate between genetic HSP forms.
Conclusions:
- MRI is a valuable tool in the diagnostic workup of HSPs.
- Identifying specific MRI patterns can aid in distinguishing between genetic HSP subtypes.
- Integrating MRI with genetic testing can improve diagnostic accuracy for HSPs.
Keywords:
Corpus callosumHSP diagnosisHereditary spastic paraparesisMagnetic resonance imagingWhite matter
