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Article

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

Brain : a journal of neurology - 1 Nov 2006

Masellis Mario, Momeni Parastoo, Meschino Wendy, Heffner Reid, Elder Joshua, Sato Christine, Liang Yan, St George-Hyslop Peter, Hardy John, Bilbao Juan, Black Sandra, Rogaeva Ekaterina

Abstract excerpt

Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor...

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Identifiers

PMID: 17030534
DOI: 10.1093/brain/awl276

Genes

CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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