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White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa1,2, Shihan Chen1, Zehra Isik Hasiloglu1
1Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Journal of Neurology
|August 14, 2023
Summary
Hereditary spastic paraplegia type 76 (SPG76), caused by CAPN1 variants, often shows periventricular white matter abnormalities. These findings can mimic acquired white matter disorders, impacting diagnosis.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Hereditary spastic paraplegias (HSPs) are a group of genetic disorders affecting the pyramidal tracts.
- SPG76, caused by calpain-1 (CAPN1) variants, is a rare form of HSP.
- Previously, MRI findings in SPG76 were limited to mild cerebellar atrophy, with white matter abnormalities rarely reported.
Purpose of the Study:
- To investigate the spectrum of white matter abnormalities in SPG76 using MRI.
- To identify potential MRI patterns specific to SPG76.
Main Methods:
- Retrospective qualitative radiological analysis of 15 SPG76 subjects.
- Quantitative analysis of white matter changes in one proband with longitudinal data.
Main Results:
- Bilateral periventricular white matter involvement observed in 80% of subjects.
- Multifocal subcortical abnormalities were present in 33.3% of subjects.
- Longitudinal analysis showed progression of white matter lesions over time.
Conclusions:
- SPG76 is associated with significant white matter abnormalities, primarily periventricular.
- These findings expand the MRI characteristics of SPG76.
- Recognizing these patterns is crucial to avoid misdiagnosis as acquired white matter disorders.
