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Article

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 6 Jan 2026

Roy Subhajit, Mahale Rohan R

Abstract excerpt

BACKGROUND: Kufor-Rakeb syndrome (KRS), a autosomal recessive disease has phenotypic and genotypic variability. OBJECTIVE: Detailed description of the clinical, imaging, genetic profile of KRS and comparison of Indian cohort with Asian, Middle east and European cohort. METHODS: Report of two patients of KRS and review of reported cases of KRS since 2006 from Indian, Asian, Middle east and European cohorts....

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Identifiers

PMID: 41493629
DOI: 10.1007/s10072-025-08744-0

Genes

ATP13A2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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