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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Classification of primary progressive aphasia and its variants
This article provides a classification of primary progressive aphasia (PPA) and its 3 main variants to improve the uniformity of case reporting and the reliability of research results. Criteria for…
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.
- K. Rascovsky, J. Hodges, B. Miller
- Medicine, PsychologyBrain : a journal of neurology
- 1 September 2011
The revised criteria for behavioural variant frontotemporal dementia improve diagnostic accuracy compared with previously established criteria in a sample with known frontotmporal lobar degeneration and reflect the optimized diagnostic features, less restrictive exclusion features and a flexible structure that accommodates different initial clinical presentations.
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
It is demonstrated that in multiple FTD families with significant evidence for linkage to the same region on chromosome 17q21, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles and identified mutations in PGRN as a cause of neurodegenerative disease.
Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy
PCA is a distinctive dementia syndrome in which the most pronounced pathologic involvement is in the occipitoparietal regions independent of the specific underlying pathology.
Mild cognitive impairment: ten years later.
This review summarizes the progress that has been made while also recognizing the challenges that remain and outlines the priorities for further research into mild cognitive impairment.
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two…
Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease.
The data suggest that many patients with 'idiopathic' RBD are actually exhibiting an early clinical manifestation of an evolving neurodegenerative disorder, and may be appropriate for future drug therapies that affect synuclein pathophysiology, in which the development of parkinsonism and/or dementia could be delayed or prevented.
Diagnosis and management of dementia with Lewy bodies
The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for…
Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia
The term corticobasal syndrome (CBS) is used to characterize the constellation of clinical features initially considered the defining characteristics of corticOBasal degeneration and reserve use of the term corto-CBD (CBD) for the histopathological disorder.