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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansionExpand
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of PGRN mutations inExpand
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Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
OBJECTIVE To identify single-nucleotide polymorphisms (SNPs) associated with risk and age at onset of Alzheimer disease (AD) in a genomewide association study of 469 438 SNPs. DESIGN Case-controlExpand
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The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
The most common pathology in frontotemporal dementia (FTD) is tau-negative, ubiquitin-immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in the progranulin (PGRN)Expand
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Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Background Frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) is a heritable form of FTD, but the gene(s) responsible for the majority of autosomal dominant FTD-ALS cases have yet to beExpand
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Early-onset familial Alzheimer's disease (EOFAD).
Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations inExpand
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Cholesterol in Alzheimer's disease
Alzheimer's disease (AD) is the most common form of neurodegenerative dementia and affects up to 15 million people worldwide. Although no single cause of AD has been identified, recent research hasExpand
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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
Frontotemporal dementia and amyotrophic lateral sclerosis are closely related clinical syndromes with overlapping molecular pathogenesis. Several families have been reported with members affected byExpand
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Long‐term efficacy of botulinum toxin A in treatment of various movement disorders over a 10‐year period
Although botulinum toxin A (BTX) has been licensed in Canada for treatment of various movement disorders since 1990, few clinical studies regarding its long‐term efficacy and side effects have beenExpand
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Diagnosis and treatment of dementia: 1. Risk assessment and primary prevention of Alzheimer disease
Background: In addition to nonmodifiable genetic risk factors, potentially modifiable factors such as hypertension, hyperlipidemia and environmental exposures have been identified as risk factors forExpand
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