Cognitive Assessment in Grappling Athletes Following Choke Versus Non-Choke Submissions.

PURPOSE: Participation in Brazilian jiu-jitsu (BJJ) and mixed martial arts has increased over the last 3 decades. These sports feature submission attacks, including strangles. These strangles, termed "chokes" in this context, primarily limit blood flow to the brain via compression of neck vasculature. There has been discussion in literature of the possibility of measurable cognitive effects following transient choking episodes. The present study used the King-Devick test (KDT) platform, a tablet-based reaction time and accuracy task designed to measure participants' number recognition, cognition, and verbal expression. This task requires functional vision, saccadic eye movements, comprehension and expression. METHODS: Volunteer participants were screened for exclusion (prior brain injury) criteria and survey information prior to testing. Athletes were tested with the KDT immediately prior to a BJJ training session, again immediately after succumbing to either a choke ("Choke" arm) or non-choke ("Non-Choke" arm) submission while sparring, and again after a 10-minute rest period following the post-submission test. Analysis was done on Test Failures, Total Test Times, and Individual Difference Scores between baseline and subsequent testing. RESULTS: 62 (32 Choke, 30 Non-Choke) participants were analyzed. There was no significant difference between Choke and Non-Choke in Test failures (X2(1,62) = 1.25, p = 0.263), Total Times (t(60) = 0.62, p = 0.540, 95% CI [-3.44, 6.51]), and Individual Difference Scores (t(60) = 0.29, p = 0.776, 95% CI [-2.41, 3.21]). CONCLUSIONS: There were no significant differences between study arms in any of the 3 analyzed measures. This suggests that cognitive functioning, as measured by the King-Devick test, is not affected by transient choking episodes.

Impact of repeated sportive chokes on carotid intima media thickness and brain injury biomarkers in grappling athletes.

PURPOSE: Vascular neck compression techniques, referred to as 'chokes' in combat sports, reduce cerebral perfusion, causing loss of consciousness or voluntary submission by the choked athlete. Despite these chokes happening millions of times yearly around the world, there is scant research on their long-term effects. This pilot study evaluated whether repeated choking in submission grappling impacts the carotid intima media thickness (CIMT) and brain injury biomarkers (NFL, hGFAP, t-Tau, and UCH-L1). METHODS: Participants (n = 39, 29 male; ages 27-60 years) were assigned to one of two study arms: Grapplers (n = 20, 15 male) and 19 age/sex/body size matched controls. Grapplers had been exposed to >500 choke events while training for >5 years in a choke-inclusive sport. Exclusion criteria were recent TBI or deficits from a past TBI or stroke. Bilateral ultrasound measurement of the CIMT was performed, and blood was collected for quantitative analysis of four brain injury markers. Subgroup analyses were performed within the Grappler group to account for blunt head trauma as a possible confounder. RESULTS: There was no overall difference in CIMT measurements between Grapplers (mean 0.55 mm, SD 0.07) and Controls (mean 0.57 mm, SD 0.10) p = 0.498 [95% CI -0.04-0.08], nor were there CIMT differences between Grappler subgroups of blunt Trauma and No-Trauma. There were no significant differences in any biomarkers comparing Grapplers and Controls or comparing Grappler subgroups of Trauma and No-Trauma. CONCLUSION: This study found no significant difference in CIMT and serum brain injury biomarkers between controls and grapplers with extensive transient choke experience, nor between grapplers with extensive past blunt head trauma and those without.

Impact of Baseline Features and Risk Factor Control on Cognitive Function in the Stenting and Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis Trial.

BACKGROUND: Cerebrovascular disease is an important cause of cognitive impairment. The aim of this study is to report the relationship between cognitive function and risk factors at baseline and during follow-up in the Stenting and Aggressive Medical Management for Preventing Recurrent stroke in Intracranial Stenosis (SAMMPRIS) trial. METHODS: Subjects in the SAMMPRIS trial were included in this study. In order to have an assessment of cognitive function independent of stroke, patients with a stroke as a qualifying event whose deficits included aphasia or neglect were excluded from these analyses as were those with a cerebrovascular event during follow-up. The Montreal Cognitive Assessment (MoCA) score was used to assess cognitive impairment at baseline, 4 months, 12 months and closeout. Cognitive impairment was defined as MoCA < 26. A multivariate analysis was performed to determine what risk factors were independent predictors of cognitive function at baseline, 12 months and closeout. Among patients randomized to aggressive medical management only, the percentage of patients with cognitive impairment was compared between patients in versus out of target for each risk factor at 12 months and closeout. RESULTS: Of the 451 patients in SAMMPRIS, 371 patients met the inclusion criteria. MoCA < 26 was present in 55% at baseline. Older age and physical inactivity were associated with cognitive impairment at baseline. Older age, non-white race, lower baseline body mass index, and baseline cognitive impairment were associated with cognitive impairment at 12 months. In the aggressive medical management group, at 12 months, physical inactivity during follow-up was the strongest risk factor associated with cognitive impairment. CONCLUSION: Cognitive impairment is common in patients with severe symptomatic intracranial atherosclerosis. Physical inactivity at baseline and during follow-up is a strong predictor of cognitive impairment.

Is There Benefit from Stenting on Cognitive Function in Intracranial Atherosclerosis?

BACKGROUND: Revascularization of stenotic cerebral arteries is hypothesized to improve cognition by increasing cerebral perfusion. AIMS: We compared cognition impairment among patients treated with percutaneous angioplasty and stenting (PTAS) and aggressive medical management (AMM) versus AMM alone in the Stenting versus Aggressive Medical Therapy for Intracranial Arterial Stenosis (SAMMPRIS) Trial. METHODS: In SAMMPRIS, 451 patients with recent transient ischemic attack or stroke attributed to 70-99% intracranial stenosis were randomized to PTAS plus AMM or AMM alone. Patients who had stroke as the qualifying event with National Institutes of Health Stroke Scale indicating aphasia or neglect were excluded from these analyses. Patients with a cerebrovascular event (ischemic stroke, cerebral infarct with temporary signs or intracranial hemorrhage) during follow-up were excluded from follow-up visit analyses. The Montreal Cognitive Assessment (MoCA) score was used to assess cognition impairment at baseline, 4 months, 12 months and closeout. Cognitive impairment was defined as MoCA <26. Mean MoCA scores and the percentage of patients with cognitive impairment were compared between treatment groups at each time point using t tests and chi-square tests. Differences in MoCA mean at baseline and follow-up time points were compared using mixed model repeated measures ANOVA and Tukey-Kramer tests. RESULTS: There were no significant differences between the treatment groups for mean MoCA at any time point. Mean MoCA scores improved in both groups. The percentage of patients with cognitive impairment in the AMM versus PTAS groups was not significantly different at any time point. CONCLUSIONS: Revascularization with PTAS showed no improvement in cognitive impairment over AMM alone among patients who did not have recurrent cerebrovascular events during follow-up.

Progressive Multifocal Leukoencephalopathy: Recent Advances and a Neuro-Ophthalmological Review.

BACKGROUND: Progressive multifocal leukoencephalopathy (PML) is a severe often fatal opportunistic infection of the central nervous system caused by reactivation of a ubiquitous polyoma virus, JC virus. Although typically characterized by multifocal asymmetric subcortical white matter lesions, it may be monofocal and affect the cortical gray matter. Among the broad spectrum of clinical manifestations that occurs with PML, visual complaints are common. EVIDENCE ACQUISITION: Combination of representative personally observed cases of PML and comprehensive review of case series of PML from 1958 through 2014. RESULTS: Neuro-ophthalmic signs and symptoms were reported in approximately 20%-50% of patients with PML and can be the presenting manifestation in half of these. A majority of these presentations occur from damage to cerebral visual pathways resulting in visual field defects, cortical blindness, and other disorders of visual association. Given the decreased frequency of infratentorial and cerebellar involvement, ocular motility disorders are less common. CONCLUSIONS: Visual complaints occur in patients with PML and are often the presenting sign. Awareness of this condition is helpful in avoiding unnecessary delays in the diagnosis of PML and management of the underlying condition. Recent guidelines have established criteria for diagnosis of PML in the high-risk patient population and strategies to mitigate the risk in these populations.

Oscillating Square Wave Transcranial Direct Current Stimulation (tDCS) Delivered During Slow Wave Sleep Does Not Improve Declarative Memory More Than Sham: A Randomized Sham Controlled Crossover Study.

BACKGROUND: A 2006 trial in healthy medical students found that anodal slow oscillating tDCS delivered bi-frontally during slow wave sleep had an enhancing effect in declarative, but not procedural memory. Although there have been supporting animal studies, and similar findings in pathological groups, this study has not been replicated, or refuted, in the intervening years. We therefore tested these earlier results for replication using similar methods with the exception of current waveform (square in our study, nearly sinusoidal in the original). OBJECTIVE/HYPOTHESIS: Our objective was to test the findings of a 2006 trial suggesting bi-frontal anodal tDCS during slow wave sleep enhances declarative memory. METHODS: Twelve students (mean age 25, 9 women) free of medical problems underwent two testing conditions (active, sham) in a randomized counterbalanced fashion. Active stimulation consisted of oscillating square wave tDCS delivered during early Non-Rapid Eye Movement (NREM) sleep. The sham condition consisted of setting-up the tDCS device and electrodes, but not turning it on during sleep. tDCS was delivered bi-frontally with anodes placed at F3/F4, and cathodes placed at mastoids. Current density was 0.517 mA/cm(2), and oscillated between zero and maximal current at a frequency of 0.75 Hz. Stimulation occurred during five-five minute blocks with 1-min inter-block intervals (25 min total stimulation). The primary outcomes were both declarative memory consolidation measured by a paired word association test (PWA), and non-declarative memory, measured by a non-dominant finger-tapping test (FTT). We also recorded and analyzed sleep EEG. RESULTS: There was no difference in the number of paired word associations remembered before compared to after sleep [(active = 3.1 ± 3.0 SD more associations) (sham = 3.8 ± 3.1 SD more associations)]. Finger tapping improved, (non-significantly) following active stimulation [(3.6 ± 2.7 SD correctly typed sequences) compared to sham stimulation (2.3 ± 2.2 SD correctly typed sequences)]. CONCLUSION: In this study, we failed to find improvements in declarative or performance memory and could not replicate an earlier study using nearly identical settings. Specifically we failed to find a beneficial effect on either overnight declarative or non-declarative memory consolidation via square-wave oscillating tDCS intervention applied bi-frontally during early NREM sleep. It is unclear if the morphology of the tDCS pulse is critical in any memory related improvements.

A comparison of four embedded validity indices for the RBANS in a memory disorders clinic.

This examination of four embedded validity indices for the Repeated Battery for the Assessment of Neuropsychological Status (RBANS) explores the potential utility of integrating cognitive and self-reported depressive measures. Examined indices include the proposed RBANS Performance Validity Index (RBANS PVI) and the Charleston Revised Index of Effort for the RBANS (CRIER). The CRIER represented the novel integration of cognitive test performance and depression self-report information. The sample included 234 patients without dementia who could be identified as having demonstrated either valid or invalid responding, based on standardized criteria. Sensitivity and specificity for invalid responding varied widely, with the CRIER emerging as the best all-around index (sensitivity = 0.84, specificity = 0.90, AUC = 0.94). Findings support the use of embedded response validity indices, and suggest that the integration of cognitive and self-report depression data may optimize detection of invalid responding among older Veterans.

Racial differences in poststroke rehabilitation utilization and functional outcomes.

OBJECTIVE: To examine racial differences in poststroke rehabilitation utilization and functional outcomes. DESIGN: Observational follow-up study. SETTING: Designated stroke center. PARTICIPANTS: Stroke survivors (N=162; 106 whites and 56 blacks) surveyed at 1 year poststroke. INTERVENTION: Not applicable. MAIN OUTCOME MEASURES: Twenty-question measure of activities of daily living (ADL) and instrumental activities of daily living (IADL) performance, life participation, and driving. One-year follow-up data collected from stroke survivors as part of the Stroke Education and Prevention-South Carolina Project were examined for racial disparities in rehabilitation utilization and functional outcomes. RESULTS: Analyses revealed no significant differences between blacks and whites for rehabilitation utilization. In multivariate comparisons controlling for stroke severity, blacks were less likely to report independence in overall functional performance and domain-specific measures of toileting, walking, transportation, laundry, and shopping. Blacks also reported less independence in driving at 1-year follow-up. CONCLUSIONS: Blacks were less likely to report independence in performing ADL and IADL at 1 year poststroke after controlling for stroke severity. Racial disparities were reported in ADL and IADL performance despite a lack of racial differences in rehabilitation utilization. Future studies are needed to further understand the reason for this disparity in reported functional independence.

Antihypertensive medication persistence 1-year post-stroke hospitalization.

To optimize the translation of clinical trial evidence that antihypertensive treatment reduces recurrent stroke risk into clinical practice, it is important to assess the frequency of long-term antihypertensive drug persistence after stroke and identify the factors associated with low persistence. Structured telephone interviews to determine antihypertensive regimen persistence 1-year post-stroke hospitalization were conducted in 270 stroke survivors, of which 212 (78.5%) were discharged on antihypertensive therapy (two thirds on >1 drug class). Continued use of any antihypertensive agent at 1 year of follow-up was relatively high (87.3%); however, persistence on all or two or more drug classes prescribed at discharge was relatively low (38.7%). Continued use varied by drug class, with the highest rates among angiotensin-converting enzyme inhibitor (69.1%) and the lowest rates among diuretic (24.4%) users. Black patients (adjusted odds ratio, 0.35; 95% confidence interval, 0.16-0.78) and those with a high comorbidity burden (adjusted odds ratio , 0.39; 95% confidence interval, 0.18-0.86) were less likely to exhibit persistence on prescribed treatments 1-year post-stroke hospitalization. These results indicate the need for further study to identify appropriate persistence of antihypertensive therapies for secondary stroke prevention and to investigate reasons for racial disparities in persistence on prescribed treatments in a real-world clinical setting.

The impact of ICD-9 revascularization procedure codes on estimates of racial disparities in ischemic stroke.

BACKGROUND: The use of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) diagnostic codes can identify racial disparities in ischemic stroke hospitalizations; however, inclusion of revascularization procedure codes as acute stroke events may affect the magnitude of the risk difference. This study assesses the impact of excluding revascularization procedure codes in the ICD-9 definition of ischemic stroke, compared with the traditional inclusive definition, on racial disparity estimates for stroke incidence and recurrence. METHODS: Patients discharged with a diagnosis of ischemic stroke (ICD-9 codes 433.00-434.91 and 436) were identified from a statewide inpatient discharge database from 2010 to 2012. Race-age specific disparity estimates of stroke incidence and recurrence and 1-year cumulative recurrent stroke rates were compared between the routinely used traditional classification and a modified classification of stroke that excluded primary ICD-9 cerebral revascularization procedures codes (38.12, 00.61, and 00.63). RESULTS: The traditional classification identified 7878 stroke hospitalizations, whereas the modified classification resulted in 18% fewer hospitalizations (n = 6444). The age-specific black to white rate ratios were significantly higher in the modified than in the traditional classification for stroke incidence (rate ratio, 1.50; 95% confidence interval [CI], 1.43-1.58 vs. rate ratio, 1.24; 95% CI, 1.18-1.30, respectively). In whites, the 1-year cumulative recurrence rate was significantly reduced by 46% (45-64 years) and 49% (≥ 65 years) in the modified classification, largely explained by a higher rate of cerebral revascularization procedures among whites. There were nonsignificant reductions of 14% (45-64 years) and 19% (≥ 65 years) among blacks. CONCLUSIONS: Including cerebral revascularization procedure codes overestimates hospitalization rates for ischemic stroke and significantly underestimates the racial disparity estimates in stroke incidence and recurrence.

Home diuretic protocol for heart failure: partnering with home health to improve outcomes and reduce readmissions.

CONTEXT: The management of heart failure (HF) is challenging, with high rates of readmission and no single solution. MaineHealth, a health care system serving southern Maine, has shown initial success with home health nurses partnering with physicians in the management of complex patients with HF using the MaineHealth Home Diuretic Protocol (HDP). OBJECTIVE: To demonstrate that augmented diuretic therapy, both oral and intravenous, an evidence-based treatment for care of patients with HF experiencing fluid retention, can be delivered safely in the home setting using the HDP and can improve outcomes for recently hospitalized patients with HF. DESIGN: In late 2011, the MaineHealth HDP was implemented in two hospitals and in the home health agency serving those hospitals. The patient population included recently hospitalized patients with a diagnosis of advanced HF, eligible for home health services and telemonitoring. MAIN OUTCOME MEASURES: Home health nurses reported data on the patients managed using the protocol, including interventions made, physical findings, lab values, and patient disposition after each episode of care. Questionnaires were used to determine patient and clinician satisfaction. RESULTS: Sixty patients meeting the criteria above were enrolled between November 2011 and January 2014. The protocol was initiated 84 times for 30 of these patients. Sixteen patients had multiple activations. The readmission rate was 10% and no adverse outcomes were observed. Clinician and patient satisfaction was 97% or greater. CONCLUSION: The MaineHealth HDP can be delivered effectively and safely to improve outcomes, reducing readmissions and allowing patients to remain at home.

Persistent racial disparity in stroke hospitalization and economic impact in young adults in the buckle of stroke belt.

BACKGROUND AND PURPOSE: Mounting evidence points to a decline in stroke incidence. However, little is known about recent patterns of stroke hospitalization within the buckle of the stroke belt. This study aims to investigate the age- and race-specific secular trends in stroke hospitalization rates, inpatient stroke mortality rates, and related hospitalization charges during the past decade in South Carolina. METHODS: Patients from 2001 to 2010 were identified from the State Inpatient Hospital Discharge Database with a primary discharge diagnosis of stroke (International Classification of Diseases, Ninth Revision codes: 430-434, 436, 437.1). Age- and race-stroke-specific hospitalization rates, hospital charges, charges associated with racial disparity, and 30-day stroke mortality rates were compared between blacks and whites. RESULTS: Of the 84,179 stroke hospitalizations, 31,137 (37.0%) were from patients aged<65 years and 29,846 (35.5%) were blacks. Stroke hospitalization rates decreased in the older population (aged≥65 years) for both blacks and whites (P<0.001) but increased among the younger group (aged<65 years; P=0.004); however, this increase was mainly driven by a 17.3% rise among blacks (P=0.001), with no difference seen among whites (P=0.84). Of hospital charges totaling $2.77 billion, $453.2 million (16.4%) are associated with racial disparity (79.6% from patients aged<65 years). Thirty-day stroke mortality rates decreased in all age-race-stroke-specific groups (P<0.001). CONCLUSIONS: The stroke hospitalization rate increased in the young blacks only, which results in a severe and persistent racial disparity. It highlights the urgent need for a racial disparity reduction in the younger population to alleviate the healthcare burden.

Effect of methylphenidate on attention in apathetic AD patients in a randomized, placebo-controlled trial.

BACKGROUND: Little is known about the effect of methylphenidate (MPH) on attention in Alzheimer's disease (AD). MPH has shown to improve apathy in AD, and both apathy and attention have been related to dopaminergic function. The goal was to investigate MPH effects on attention in AD and assess the relationship between attention and apathy responses. METHODS: MPH (10 mg PO twice daily) or placebo was administered for six weeks in a randomized, double-blind trial in mild-to-moderate AD outpatients with apathy (Neuropsychiatric Inventory (NPI) Apathy ≥ 4). Attention was measured with the Wechsler Adult Intelligence Scale--Digit Span (DS) subtest (DS forward, selective attention) and apathy with the Apathy Evaluation Scale (AES). A mixed effects linear regression estimated the difference in change from baseline between treatment groups, defined as δ (MPH (DS week 6-DS baseline)) - (placebo (DS week 6-DS baseline)). RESULTS: In 60 patients (37 females, age = 76 ± 8, Mini-Mental State Examination (MMSE) = 20 ± 5, NPI Apathy = 7 ± 2), the change in DS forward (δ = 0.87 (95% CI: 0.06-1.68), p = 0.03) and DS total (δ = 1.01 (95% CI: 0.09-1.93), p = 0.03) favored MPH over placebo. Of 57 completers, 17 patients had improved apathy (≥3.3 points on the AES from baseline to end point) and 40 did not. There were no significant associations between AES and NPI Apathy with DS change scores in the MPH, placebo, AES responder, or non-responder groups. DS scores did not predict apathy response to MPH treatment. CONCLUSION: These results suggest MPH can improve attention and apathy in AD; however, the effects appear independent in this population.

Safety and efficacy of methylphenidate for apathy in Alzheimer's disease: a randomized, placebo-controlled trial.

OBJECTIVE: In a recent crossover trial, methylphenidate treatment decreased apathy in Alzheimer's disease. We further assessed this finding in the Apathy in Dementia Methylphenidate Trial (ADMET). METHOD: Six-week, randomized, double-blind, placebo-controlled multicenter trial enrolling Alzheimer's disease participants (NINCDS-ADRDA criteria) with apathy assigned to methylphenidate 20 mg daily or placebo, conducted from June 2010 to December 2011. Primary outcomes were change in Apathy Evaluation Scale (AES) score and modified Alzheimer's Disease Cooperative Study-Clinical Global Impression of Change (ADCS-CGI-C). Secondary outcomes included change in Neuropsychiatric Inventory (NPI) apathy score, Mini-Mental State Examination (MMSE) score, and safety. RESULTS: 60 participants were randomly assigned (29 methylphenidate, 31 placebo). At baseline, mean (SD) age = 76 (8) years, MMSE score = 20 (5), AES score = 51 (12), NPI total score = 16 (8), and 62% of the participants (n = 37) were female. After 6 weeks' treatment, mean (SD) change in AES score was -1.9 (1.5) for methylphenidate and 0.6 (1.4) for placebo (P = .23). Odds ratio for improvement in ADCS-CGI-C was 3.7 (95% CI, 1.3 to 10.8) (P = .02), with 21% of methylphenidate versus 3% of placebo rated as moderately or markedly improved. NPI apathy score improvement was 1.8 points (95% CI, 0.3 to 3.4) greater on methylphenidate than on placebo (P = .02). MMSE trended toward improvement on methylphenidate (P = .06). There were trends toward greater anxiety and weight loss > 2% in the methylphenidate-treated group. CONCLUSIONS: Methylphenidate treatment of apathy in Alzheimer's disease was associated with significant improvement in 2 of 3 efficacy outcomes and a trend toward improved global cognition with minimal adverse events, supporting the safety and efficacy of methylphenidate treatment for apathy in Alzheimer's disease. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT01117181.

Designing a trial to evaluate potential treatments for apathy in dementia: the apathy in dementia methylphenidate trial (ADMET).

BACKGROUND: Research on efficacious treatments for apathy in Alzheimer disease has been hindered by a lack of consensus diagnosis, difficulties in measurement, and studies with small sample sizes. METHODS: In designing the Apathy in Dementia Methylphenidate Trial (ADMET), a trial to evaluate the efficacy and safety of methylphenidate for the treatment of apathy in Alzheimer disease, we encountered the following issues: defining and measuring apathy, distinguishing apathy and depression, determining an appropriate test treatment, selecting relevant secondary outcomes, recruiting participants, and deciding on a suitable method for treatment unmasking. ADMET is a 6-week randomized, double-masked, placebo-controlled multicenter clinical trial with two parallel treatment groups assigned in a 1:1 ratio with randomization stratified by clinical center. The recruitment goal is 60 randomized participants over 2 years. The primary outcomes are change in apathy severity as measured by the Apathy Evaluation Scale and the Alzheimer Disease Cooperative Study-Clinical Global Impression of Change. CONCLUSION: The design decisions made for ADMET are important elements to be considered in trials assessing the safety and efficacy of medications for clinically significant apathy in Alzheimer disease.

Performance on Standard Indexes of Effort Among Patients with Dementia.

Assessment of response validity is an integral part of neuropsychological practice. Although many studies have demonstrated the efficacy of stand alone and embedded effort measures in a variety of medical and compensation-seeking contexts, much less is known about the robustness of these measures in elderly populations, particularly in patients with dementia. Although older adults may be viewed as less likely to intentionally feign symptoms for an external gain, there are a variety of other factors that could result in suboptimal effort, including fatigue, lack of interest or cooperation in the testing process, or failure to fully appreciate the implications of the assessment on treatment care and outcome. The current study examined the clinical utility of several stand alone and embedded effort measures including the Repeatable Battery for the Assessment of Neuropsychological Status Effort Index, Trail-Making Test Ratio, Rey 15-Item Test, and the Test of Memory Malingering in a sample of patients with dementia. Results found that the majority of effort indexes demonstrated unacceptably high false-positive error rates with specificity levels as high as 83%. These findings demonstrate the need for caution in interpreting effort measure performance in dementia samples due to the fact that despite their best effort, many patients with dementia fail effort measures and are at risk for being misclassified.

The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease.

We present a unique thirty-nine year old woman with both Huntington's disease (HD) and spinocerebellar ataxia type 10 (SCA10). She has 48 CAG repeats in the HD gene and 2511 ATTCT repeats in the ATX10 gene. Although both conditions are repeat expansion diseases they are thought to have quite different pathogenic mechanisms. The symptomatic age of onset in this patient (mid30s) is within the expected range for her repeat expansion sizes for each condition, but we discuss the evidence that the two conditions may interact to produce a more severe cognitive phenotype than would be expected for either of the conditions independently. The subject has Amerindian background on the maternal side from Colombia, South America, thus adding a 5th country expressing SCA10, all with Amerindian ancestry.

APOE genotype in the diagnosis of Alzheimer's disease in patients with cognitive impairment.

BACKGROUND: Although an association between the apolipoprotein E (APOE) ε4 allele and increased risk of Alzheimer's disease (AD) is established, the utility of APOE genotyping in the clinical diagnosis of AD is still under investigation. METHODS: Medical records of 89 patients with cognitive impairment and APOE genotype data underwent a retrospective review. RESULTS: Comparison of age, age at onset, education, Mini-Mental State Examination, months of follow-up, and family history of dementia did not reveal statistical difference among the patients with different APOE genotypes. The APOE ε4 carriers had a higher percentage of AD diagnoses after a median 16 months follow-up than non-APOE ε4 carriers. The APOE ε4 designation had a high sensitivity and high positive predictive value for the diagnosis of AD but a low negative predictive value and specificity. CONCLUSIONS: The APOE genotyping may be helpful in diagnosing AD especially in patients presenting with atypical features or early age of onset of dementia.