A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.

Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder. Here, we describe a patient with Huntington-like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremities, with prominent cognitive deterioration. White matter lesions in cerebral hemispheres and brainstem, cerebellar atrophy, and low gonadotropin serum levels have been demonstrated. We have identified a homozygous deletion of exon 2 in the RNF216 gene by whole-exome sequencing. Our findings increased genetic knowledge of autosomal recessive Huntington-like disorder and extended the ethnic distribution of RNF216 mutations.

An abbreviated version of Silhouettes test: a brief validated mild cognitive impairment screening tool.

OBJECTIVES: To revise an abbreviated version of the Silhouettes subtest of the Visual Object and Space Perception (VOSP) battery in order to recognize mild cognitive impairment (MCI) and determine the optimal cutoffs to differentiate among cognitively normal controls (NC), MCI, and Alzheimer's Disease (AD) in the Chinese elderly. DESIGN: A cross-sectional validation study. SETTING: Huashan Hospital, Shanghai, China. SUBJECTS: A total of 591 participants: Individuals with MCI (n = 211), AD (n = 139) and NC (n = 241) were recruited from the Memory Clinic, Huashan Hospital, Shanghai, China. METHODS: Baseline neuropsychological battery (including VOSP) scores were collected from firsthand data. An abbreviated version of silhouettes test (Silhouettes-A) was revised from the original English version more suitable for the elderly, including eight silhouettes of animals and seven silhouettes of inanimate objects, with a score ranging from 0 to 15. RESULTS: Silhouettes-A was an effective test to screen MCI in the Chinese elderly with good sensitivity and specificity, similar to the Montreal cognitive assessment and superior to other single tests reflecting language, spatial, or executive function. However, it had no advantage in distinguishing MCI from AD. The corresponding optimal cutoff scores of Silhouettes-A were 10 for screening MCI and 8 for AD. CONCLUSION: Silhouettes-A is a quick, simple, sensitive, and dependable cognitive test to distinguish among NC, MCI, and AD patients.

Chinese version of Montreal Cognitive Assessment Basic for discrimination among different severities of Alzheimer's disease.

OBJECTIVES: To find out whether the Chinese version of Montreal Cognitive Assessment Basic (MoCA-BC) and its subtests could be applied in discrimination among cognitively normal controls (NC), mild cognitive impairment (MCI), mild and moderate Alzheimer's Disease (AD), and furthermore, to determine the optimal cutoffs most sensitive to distinguish between them. DESIGN: A cross-sectional validation study. SETTING: Huashan Hospital, Shanghai, China. PARTICIPANTS: There was a total of 1,969 participants: individuals with MCI (n=663), mild (n=345), moderate (n=441) AD, and cognitively NC (n=520) were recruited from the Memory Clinic, Huashan Hospital, Shanghai, China. MEASUREMENTS: Baseline MoCA-BC scores were collected from firsthand data. Two subtests were calculated from MoCA-BC: the Memory Index Score of MoCA-BC (MoCA-BC-MIS) and the Non-memory Index Score of MoCA-BC (MoCA-BC-NM). RESULTS: MoCA-BC was an effective cognitive tool to discriminate among NC, MCI, mild and moderate AD in the Chinese elderly across all education groups, implying that it was efficient not only for detecting MCI, but for different severities of AD as well. For MCI screening, the total score of MoCA-BC (MoCA-BC-T) and MoCA-BC-MIS had similar high sensitivity and specificity. For discrimination among MCI, mild and moderate AD, the MoCA-BC-T and MoCA-BC-NM had similar performance. CONCLUSION: MoCA-BC is an effective cognitive test to distinguish between NC, MCI, mild and moderate AD among the Chinese elderly with various levels of education.