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1
The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort.
In: J Neurol Neurosurg Psychiatry (2017) (2017)
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2
Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia.
In: J Neurol Neurosurg Psychiatry , 84 (12) pp. 1411-1412. (2013) (2013)
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3
Progressive logopenic/phonological aphasia: Erosion of the language network
In: NEUROIMAGE , 49 (1) 984 - 993. (2010) (2010)
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4
The heritability and genetics of frontotemporal lobar degeneration
In: NEUROLOGY , 73 (18) 1451 - 1456. (2009) (2009)
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5
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
In: BRAIN , 131 706 - 720. (2008) (2008)
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6
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene
In: ARCH NEUROL-CHICAGO , 65 (4) 506 - 513. (2008) (2008)
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7
Mapping the progression of progranulin-associated frontotemporal lobar degeneration
In: NAT CLIN PRACT NEURO , 4 (8) 455 - 460. (2008) (2008)
Abstract: Background A 55-year-old woman was followed over a 13-year period as part of a longitudinal study of people at risk for familial dementia. She was a member of a family with an autosomal dominant familial dementia that fulfilled consensus criteria for frontotemporal lobar degeneration. The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction.Investigations Clinical assessments, neuropsychometry, volumetric brain MRI, and genetic mutation screening.Diagnosis Progranulin-associated frontotemporal lobar degeneration.Management Explanation of the patient's condition and genetic counseling for her family.
Keyword: ALZHEIMERS-DISEASE; ATROPHY; CONSENSUS; CRITERIA; dementia; frontotemporal lobar degeneration; GENE-MUTATIONS; progranulin; progressive aphasia; SERIAL MRI
URL: http://discovery.ucl.ac.uk/145934/
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