Gorana Mandic Stojmenovic

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2

Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were genetically confirmed. Patients underwent analysis of five cognitive domains (visuospatial, executive, attention, memory and language). Virtually all DM1 patients had cognitive defect with approximately 2–3 cognitive domains affected. On the other hand, one-third of DM2 patients had completely normal neuropsychological findings, and in other two-thirds approximately 1–2 domains were affected. Cluster analysis showed that in both diseases visuospatial and executive dysfunctions seemed to be the main cognitive defects, while memory and language impairments appeared in more severe phenotypes. Our results showed that a single form of DM1 or DM2 may consist of several cognitive clusters. Understanding of cognitive impairments in DM is very important to follow positive and side effects in ongoing and future clinical trials.

Routine echocardiography in patients with myotonic dystrophy type 1

Background Myotonic dystrophy type 1 (DM1) is an autosomal‐dominant disease. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. The aim of this study was to analyze echocardiographic findings in a large cohort of DM1 patients. Methods This retrospective study comprised 111 patients and 71 healthy controls (HCs) matched for gender and age. Results Mitral valve (MV) prolapse was observed in 23% of our DM1 patients vs. 8.5% of HCs (p < 0.05). Left ventricle (LV) systolic dysfunction was observed in 6% of patients and none of the HCs (p < 0.05). Frequency of diastolic dysfunction showed no significant difference between DM1 patients and HCs (8.1% vs. 15.5%, p > 0.05). Systolic dysfunction was more common in patients with severe electrocardiographic (ECG) abnormality (18.8% vs. 2.7%, p < 0.01). Conclusion One fourth of DM1 patients have MV prolapse. Approximately 15% of DM1 patients have systolic or diastolic LV dysfunction. These patients should have benefit from medical therapy. Furthermore, it seems that treatment of conduction defects might prevent development of the heart failure (HF).

Psychiatric Symptoms in the Initial Motor Stage of Parkinson's Disease.

Neuropsychiatric symptoms (NPS) are common in Parkinsons disease (PD). The aim of this study was to estimate the correlates of NPS in patients with PD in the initial motor stage of the disease (hemiparkinsonism). A total of 111 patients with PD and 105 healthy control participants were assessed. Patients with PD experienced apathy, depression, and anxiety more frequently compared with healthy controls. Sleep disturbances occurred commonly in early PD patients. Patients with PD and mild cognitive impairment (MCI) had depression and anxiety more frequently, but not apathy, compared with patients with PD without MCI. The results of this study confirm a high burden of NPS even in the earliest motor stage of PD.

EARLY ONSET DEGENERATIVE DEMENTIAS: ETIOLOGICAL CLASSIFICATION AND DEMOGRAPHIC CHARACTERISTICS IN SERBIAN TERTIARY REFERRAL CENTER

distinguishing features of this disease can improve accuracy of early diagnosis. We characterized color vision impairment (CVI) in DLB patients to better understand its diagnostic utility. Methods: We retrospectively reviewed charts of patients with DLB patients and patients with mild cognitive impairment suspected to be in the prodromal phase of DLB (pro-DLB). All patients underwent an online 15-hue color vision arrangement test. Furthermore we reviewed DaT-SCAN SPECTand volumetricMRIs (available in 62% and 44% of patients, respectively). Results: Sixty-six subjects (17 pro-DLB and 49 DLB) were included in this study with a median age of 75 years and 45% were female. In the entire cohort, the symptom prevalence was: visual hallucinations (82%), abnormal DaT-SCAN (76%), tremor (74%), anosmia (71%), possible REM-behavior disorder (61%), bradykinesia (53%), and rigidity (45%). After the excluding patients who reported having color vision impairment from a young age (n1⁄42), the rate of CVI in the cohort was 64% (n1⁄441). No significant differences in gender, age, or DaT-SCAN results existed between patients with CVI vs. without CVI. Finally, we performed a multivariate stepwise logistic regression to predict which factors were significantly associated with CVI in our cohort. Overall three factors (lower MOCA total score (p1⁄40.007), postural tremor (p1⁄40.03), and anosmia (p1⁄40.03)) were independently associated with CVI. Conclusions: Color vision impairment in DLB patients occurred with similar prevalence to the core features of DLB (w70%) and was present in about half of patients with the prodromal form. Further studies are needed to determine relationships between CVI and volumetric changes on MRI and prospectively validate its diagnostic utility.

REPORT FROM BELGRADE DEMENTIA CENTER: A STEP TOWARD IMPROVING THE QUALITY OF DIAGNOSTICS AND TREATMENT OF DEMENTIA PATIENTS IN CLINICAL PRACTICE

Zunera Khan, Anne Corbett, South London and Maudsley NHS Foundation Trust, London, United Kingdom; King’s College London, London, United Kingdom; University of Exeter Medical School, Exeter, United Kingdom; Oxford Health NHS Trust, Oxford, United Kingdom; Institute of Mental Health, Faculty of Medicine & Health Sciences, University of Nottingham, Nottingham, United Kingdom; Institute of Rehabilitation, Dementia Applied Research Centre, University of Hull, Hull, United Kingdom; Institute of Medical and Social Care Research, Bangor University, Bangor, United Kingdom; King’s College London, London, United Kingdom; Whitaker Research Ltd, Bangor, United Kingdom; Oxford Health NHS Foundation Trust, Oxford, United Kingdom; London School of Economics and Political Science, London, United Kingdom. Contact e-mail: anto.rajamani@kcl.ac.uk

SCREENING FOR C9ORF72 EXPANSION MUTATION IN SERBIAN PATIENTS WITH EARLY ONSET DEMENTIA

Memory Centre (CMRR), Depart of Neurology, CHU Besançon, Besançon, France; Assistance Publique-Hôpitaux de Paris, Hôpital Broca, Paris, France; Universit e de Montpellier, Montpellier, France; INSERM-UM 1183, Montpellier, France; Centre M emoire Ressources Recherche, D epartement de Neurologie CHU Gui de Chauliac, Montpellier, France; INSERM U1171 / National Reference Centre for Young Onset Dementia / Neurology Department, University Hospital, Lille, France; Lille University, Lille, France; CHU Rouen, Rouen, France; CHU Nice, Nice, France; Cognitive Neurology Center, Paris, France; University of Paris Diderot/ AP-HP, Paris, France; Inserm U942, PARIS, France; U942, Paris, France; INSERM U942, Paris, France. Contact e-mail: emmanuel. cognat@aphp.fr

IMPACT OF BIOMARKERS ON DIAGNOSTIC CONFIDENCE IN CLINICAL ASSESSMENT OF PATIENTS WITH SUSPECTED ALZHEIMER'S DISEASE AND HIGH DIAGNOSTIC UNCERTAINTY: AN EADC STUDY

lems with memory and thinking, but tests negative. 95% endorsed being moderately or extremely concerned if a family member had problems with memory and thinking and tests positive, and 25% endorsed being moderately or extremely concerned if a family member does not have any problems with memory and thinking and tests negative. Conclusions: Family members of older adults endorse high levels of concern regarding their family members risk of have Alzheimer’s disease and express willingness to participate in trials measuring the potential benefits and harms of dementia screening on family members of older adults.