Title |
Brain imaging in Kufs disease type B: case reports
|
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Published in |
BMC Neurology, July 2015
|
DOI | 10.1186/s12883-015-0357-6 |
Pubmed ID | |
Authors |
Roberto Di Fabio, Claudio Colonnese, Filippo Maria Santorelli, Liliana Pestillo, Francesco Pierelli |
Abstract |
The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined. We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline. White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF. |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 22 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 5 | 23% |
Researcher | 4 | 18% |
Student > Bachelor | 3 | 14% |
Professor > Associate Professor | 3 | 14% |
Student > Master | 1 | 5% |
Other | 3 | 14% |
Unknown | 3 | 14% |
Readers by discipline | Count | As % |
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Neuroscience | 4 | 18% |
Agricultural and Biological Sciences | 2 | 9% |
Biochemistry, Genetics and Molecular Biology | 2 | 9% |
Psychology | 1 | 5% |
Other | 0 | 0% |
Unknown | 5 | 23% |