ObjectiveTo investigate the genetic contribution of ANXA11, a gene associated with amyotrophic lateral sclerosis (ALS), in Chinese ALS patients with and without cognitive dementia.MethodsSequencing all the coding exons of ANXA11 and intron-exon boundaries in 18 familial amyotrophic lateral sclerosis (FALS), 353 unrelated sporadic amyotrophic lateral sclerosis (SALS), and 12 Chinese patients with ALS-frontotemporal lobar dementia (ALS-FTD). The transcripts in peripheral blood generated from a splicing mutation were examined by reverse transcriptase PCR.ResultsWe identified 6 nonsynonymous heterozygous mutations (5 novel and 1 recurrent), 1 splice site mutation, and 1 deletion of 10 amino acids (not accounted in the mutant frequency) in 11 unrelated patients, accounting for a mutant frequency of 5.6% (1/18) in FALS, 2.3% (8/353) in SALS, and 8.3% (1/12) in ALS-FTD. The deletion of 10 amino acids was detected in 1 clinically undetermined male with an ALS family history who had atrophy in hand muscles and myotonic discharges revealed by EMG. The novel p. P36R mutation was identified in 1 FALS index, 1 patient with SALS, and 1 ALS-FTD. The splicing mutation (c.174-2A>G) caused in-frame skipping of the entire exon 6. The rest missense mutations including p.D40G, p.V128M, p.S229R, p.R302C and p.G491R were found in 6 unrelated patients with SALS.ConclusionsThe ANXA11 gene is one of the most frequently mutated genes in Chinese patients with SALS. A canonical splice site mutation leading to skipping of the entire exon 6 further supports the loss-of-function mechanism. In addition, the study findings further expand the ANXA11 phenotype, first highlighting its pathogenic role in ALS-FTD.
Alzheimer disease (AD) is the most common neurodegenerative brain disease that causes cognitive impairment in the elderly. Behavioral and psychological symptoms of dementia (BPSD), also known as neuropsychiatric symptoms, represent a heterogeneous group of non-cognitive symptoms and behaviors for AD patients. Sleep disorder is one closely-related psychiatric symptom of AD. In this cross-section study, we aimed to investigate the characteristics of sleep status and BPSD among AD patients in Eastern China and to assess the relationship among sleep disorder, BPSD, and cognition.A total of 176 participants were enrolled in the study, including 84 AD patients and 92 healthy individuals as controls. Mini-mental state examination (MMSE), cooperative study-activities of daily living (ADCS-ADL) and clinical dementia rating (CDR) were used to measure cognition, the competence in basic and instrumental activities of daily living, and severity of dementia, respectively. BPSD were evaluated by neuropsychiatric inventory (NPI). Pittsburgh sleep quality index (PSQI) and Epworth sleepiness scale were designed to assess the sleep status and daytime naps. Spearman correlation analyses were performed to determine the relations between PSQI, MMSE, ADCS-ADL, and NPI scores and CDR.Sleep disorders occurred in 55.9% of AD patients versus only 15.2% of controls. 89.2% of AD patients had BPSD while only 22.9% of controls did, with apathy (64.
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