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Numerous kindreds with familial frontotemporal dementia and/or amyotrophic lateral sclerosis have been linked to chromosome 9, and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 has recently been identified as the pathogenic mechanism. We describe the key characteristics in the probands and(More)
OBJECTIVE To determine whether adding REM sleep behavior disorder (RBD) to the dementia with Lewy bodies (DLB) diagnostic criteria improves classification accuracy of autopsy-confirmed DLB. METHODS We followed 234 consecutive patients with dementia until autopsy with a mean of 4 annual visits. Clinical diagnoses included DLB, Alzheimer disease (AD),(More)
Pain and disability are cardinal symptoms in osteoarthritis. The literature is reviewed in order to identify causes of these symptoms at the articular, kinesiological, and psychological level. It is concluded that pain and disability are associated with degeneration of cartilage and bone (articular level), with muscle weakness and limitations in joint(More)
OBJECTIVE Rapid eye movement sleep behavior disorder (RBD) is associated with neurodegenerative disease and particularly with the synucleinopathies. Convenience samples involving subjects with idiopathic RBD have suggested an increased risk of incident mild cognitive impairment (MCI), dementia (usually dementia with Lewy bodies), and Parkinson disease (PD).(More)
A 37-year-old woman, during her second remission of acute myeloid leukemia, presented with severe neck pain and cervico-brachial neuralgia. Investigation revealed a C5-C6 spondylodiscitis. A CT-guided anterior biopsy decompressed the mass, immediately alleviated the symptoms, and isolated a rare yeast: Blastoschizomyces capitatus. To our knowledge, only(More)
OBJECTIVE To report the phenotypic characterization of monozygotic twins with mutations encoding progranulin (PGRN). METHODS We studied a twin pair with an exon 4 gene deletion in the PGRN gene. Both twins had clinical and neuropsychological examinations as well as structural MRI and fluorodeoxyglucose PET (FDG-PET) scans. PGRN gene sequencing was(More)
OBJECTIVE To determine the risk factors associated with dementia with Lewy bodies (DLB). METHODS We identified 147 subjects with DLB and sampled 2 sex- and age-matched cognitively normal control subjects for each case. We also identified an unmatched comparison group of 236 subjects with Alzheimer disease (AD). We evaluated 19 candidate risk factors in(More)
OBJECTIVE To validate a questionnaire focused on REM sleep behavior disorder (RBD) in a community-based sample. BACKGROUND RBD is a parasomnia manifested by recurrent dream enactment behavior during REM sleep. While confirmation of RBD requires the presence of REM sleep without atonia on polysomnography (PSG), a screening measure for RBD validated in(More)
Dementia with Lewy bodies is an under-recognized disease; it is responsible for up to 20 % of all dementia cases. Accurate diagnosis is essential because the management of dementia with Lewy bodies is more complex than many neurodegenerative diseases. This is because alpha-synuclein, the pathological protein responsible for dementia with Lewy bodies (and(More)