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Article

Brain imaging in Kufs disease type B: case reports.

BMC neurology - 4 Jul 2015

Di Fabio Roberto, Colonnese Claudio, Santorelli Filippo Maria, Pestillo Liliana, Pierelli Francesco

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: We hereby report the brain MRI features in two Caucasian women who carried...

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Source

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Identifiers

PMID: 26141065
DOI: 10.1186/s12883-015-0357-6
PMCID: PMC4491254

Genes

CTSF
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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