Brain imaging in Kufs disease type B: case reports.
Roberto Di Fabio1, Claudio Colonnese2,3, Filippo Maria Santorelli4
1Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy. rodifa@gmail.com.
BMC Neurology
|July 5, 2015
Summary
Kufs disease type B (CLN13) shows brain volume reduction, white matter changes, and corpus callosum thinning. These neuroradiological findings may indicate CTSF mutations early in cognitive decline.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Kufs disease (KD) type B (CLN13) is an adult-onset neuronal ceroid lipofuscinosis (NCL) with known neurological features linked to CTSF mutations.
- Neuroradiological characteristics of CLN13 remain largely uncharacterized.
Observation:
- This study reports brain MRI findings in two Caucasian women with homozygous CTSF mutations.
- The patients presented with cognitive decline.
Findings:
- Brain MRI revealed generalized brain volume reduction.
- White matter hyperintensities and thinning of the corpus callosum were observed at the onset of cognitive decline.
- These findings were compared with neuroradiological data from other common NCLs.
Implications:
- White matter hyperintensities and corpus callosum volume reduction may be early indicators of CLN13.
- These neuroradiological clues can aid in identifying patients with CTSF mutations.
- Further research into NCL imaging biomarkers is warranted.
