Journal Article

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

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

in Brain

Published on behalf of The Guarantors of Brain

Volume 129, issue 11, pages 3115-3123
ISSN: 0006-8950
Published online October 2006 | e-ISSN: 1460-2156 | DOI: http://dx.doi.org/10.1093/brain/awl276
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

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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 thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G→A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT–PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.

Keywords: Corticobasal syndrome; frontotemporal lobar degeneration; progranulin; gene; mutation

Journal Article.  4993 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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