Details

Autor(en) / Beteiligte

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

Titel

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

Ist Teil von

• Brain (London, England : 1878), 2006-11, Vol.129 (11), p.3115-3123

Ort / Verlag

Oxford: Oxford University Press

Erscheinungsjahr

2006

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• 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.