The APOE ε4 allele is associated with increased frontally mediated neurobehavioral symptoms in amnestic MCI.

The apolipoprotein E ε4 allele is a risk factor for late-onset Alzheimer disease (AD), and the frontal lobes may be among the regions that manifest effects of ε4 even early in the disease. We predicted that among patients with amnestic mild cognitive impairment (aMCI) and AD, ε4 would be associated with increased neurobehavioral symptoms when assessed using a measure sensitive to frontal lobe integrity. We obtained cognitive data and caregiver ratings on the Frontal Systems Behavior Scale (FrSBe) for aMCI patients (N=29 ε4 carriers; N=29 noncarriers) and AD patients (N=47 carriers; N=42 noncarriers). In both diagnostic groups, ε4 carriers had lower scores on tests of memory but did not differ on cognitive screening measures or tests of executive functioning. There were no differences in retrospective caregiver ratings of preillness status on the FrSBe by ε4 status in either diagnostic group. However, in the aMCI group, ε4 carriers had elevated current FrSBe Executive Dysfunction scores in comparison with noncarriers. In the AD group, there were no differences in current FrSBe scores by genotype group. Results indicate that ε4-related behavior change occurs in the aMCI stage but may not be apparent by the AD stage.

Awareness of expressivity deficits in non-demented Parkinson disease.

A masked facial expression, one of the hallmark features of Parkinson disease (PD), can form the basis for misattributions by others about a patient's mood or interest levels. Reports of preserved intensity of internal emotional experience in PD participants raise the question of whether patients are aware of their outward expressivity levels. The aim of the present study was to determine whether PD participants exhibit deficits in overall emotional expressivity, and if so, whether they are aware of these deficits. We evaluated 37 non-demented PD participants and 21 comparison participants using the Berkeley Expressivity Questionnaire (BEQ). To examine awareness of emotional expressivity, we compared participant self-ratings of their own expressivity to ratings made by family members or close friends. Participants also completed questionnaires regarding depression and apathy and underwent motor examination and cognitive screening. PD participants' self-ratings of emotional expressivity were significantly lower than comparison participants' self-ratings. Even so, the PD participants viewed themselves as experiencing equivalent levels of emotional intensity to comparison participants, based on analysis of the BEQ subscales. Informant and PD participant self-ratings did not differ, indicating that PD participants accurately appraise the extent of their reduced expressivity. These findings suggest that anosognosia for emotional expressivity is not a prominent feature of nondemented Parkinson disease. Importantly, PD participants are aware of their reduced expressivity and report experiencing emotions as intensely as comparison participants. These findings highlight the view that diminished emotional expressivity in PD should not be mistaken for decreased subjective emotional experience.

Stability of neuropsychological performance in anorexia nervosa.

INTRODUCTION: We investigated the stability of neuropsychological performance and eating disorder (EDO) symptoms before, immediately after, and 2 years after inpatient treatment. We also examined relationships between neuropsychological and EDO measures. METHODS: Sixteen women who were admitted for inpatient treatment of anorexia nervosa participated in three evaluations: (1) at admission to the hospital, (2) at discharge, and (3) at a follow-up exam approximately two years after discharge. RESULTS: Body mass index increased significantly from each testing session to the next. Endorsement of eating disorder symptoms was significantly decreased at discharge and at follow-up compared to admission. In terms of cognitive performance, total scores on a brief neuropsychological battery (RBANS) were significantly greater at follow-up than at admission. We found no relationships between EDO symptoms and cognitive function at any of the three sessions. CONCLUSIONS: The current findings suggest that EDO symptoms and cognitive performance in anorexia nervosa patients can show improvement as long as two years after hospitalization, but there is no evidence that EDO symptoms are related to neuropsychological performance.

Brain structure in preclinical Huntington's disease.

BACKGROUND: Huntington's disease (HD) is traditionally conceptualized as a degenerative disease of the striatum. Recent scientific advances, however, have suggested neurodevelopmental contributions and extrastriatal brain abnormalities. This study was designed to assess the morphology of the brain in participants who had previously undergone elective DNA analyses for the HD mutation who did not currently have a clinical diagnosis of HD (preclinical HD subjects). METHODS: Twenty-four preclinical participants with the gene expansion for HD underwent brain magnetic resonance imaging and were compared with a group of 24 healthy control subjects, matched by gender and age. RESULTS: Huntington's disease preclinical participants had substantial morphologic differences from controls throughout the cerebrum. Volume of the cerebral cortex was significantly increased in preclinical HD, whereas the basal ganglia and cerebral white matter volume were substantially decreased. CONCLUSIONS: In individuals with the HD gene mutation who are considered healthy (preclinical for manifest disease), the morphology of the brain is substantially altered compared with matched control subjects. Although decreased volumes of the striatum and cerebral white matter could represent early degenerative changes, the novel finding of enlarged cortex suggests that developmental pathology occurs in HD.

White matter volume and cognitive dysfunction in early Huntington's disease.

BACKGROUND: Structural abnormalities of the striatum and cognitive impairments have consistently been shown in patients with Huntington's disease (HD). Fewer studies have examined other cerebral structures in early HD and potential associations with cognition. METHOD: Ten patients with early HD and 10 matched control subjects underwent magnetic resonance imaging to provide quantitative measures (volumes) of cortical gray and white matter and the caudate, putamen, and thalamus. Patients completed the Unified Huntington's Disease Rating Scale, including three cognitive tasks. RESULTS: Although striatal volumes were clearly reduced, white matter was also morphologically abnormal. Cortical gray matter volume was not significantly correlated with cognitive performance. However, the cognitive tasks were most highly correlated with cerebral white matter and, to a lesser degree, striatal volume. CONCLUSIONS: Cerebral white matter volume may be an important variable to examine in future studies of HD.