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Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652., (© 2019 American Neurological Association.)

Background: Cognitive impairment is a common nonmotor manifestation of Parkinson's disease, with deficits ranging from mild cognitive difficulties in 1 or more of the cognitive domains to severe dementia. The International Parkinson and Movement Disorder Society commissioned the assessment of the clinimetric properties of cognitive rating scales measuring global cognitive performance in PD to make recommendations regarding their use., Methods: A systematic literature search was conducted to identify the scales used to assess global cognitive performance in PD, and the identified scales were reviewed and rated as "recommended," "recommended with caveats," "suggested," or "listed" by the panel using previously established criteria., Results: A total of 12 cognitive scales were included in this review. Three scales, the Montreal Cognitive Assessment, the Mattis Dementia Rating Scale Second Edition, and the Parkinson's Disease-Cognitive Rating Scale, were classified as "recommended." Two scales were classified as "recommended with caveats": the Mini-Mental Parkinson, because of limited coverage of executive abilities, and the Scales for Outcomes in Parkinson's Disease-Cognition, which has limited data on sensitivity to change. Six other scales were classified as "suggested" and 1 scale as "listed.", Conclusions: Because of the existence of "recommended" scales for assessment of global cognitive performance in PD, this task force suggests that the development of a new scale for this purpose is not needed at this time. However, global cognitive scales are not a substitute for comprehensive neuropsychological testing. © 2017 International Parkinson and Movement Disorder Society., (© 2017 International Parkinson and Movement Disorder Society.)

Background: Functional connectivity is abnormal in PD and in early Alzheimer's disease., Objectives: The objective of this study was to evaluate resting-state striato-cortical connectivity in PD and Alzheimer's disease and assess their relation to cognitive outcomes. Groups with mild cognitive impairment as a result of different pathologies (PD vs. Alzheimer's disease) were also compared., Methods: Seed-based connectivity of the dorsal, middle, and ventral striatum was analyzed in 111 patients using functional MRI. The correlation between connectivity at regions of between-group differences and clinical outcomes was assessed., Results: Patients showed lower striatal connectivity than controls. Connectivity between the middle (associative) striatum and precuneus negatively correlated with executive functions in PD and with memory performance in Alzheimer's disease. PD with cognitive impairment showed decreased connectivity of the dorsal (motor) striatum when compared with early Alzheimer's disease., Conclusions: Striatal connectivity was reduced in patients when compared with controls. Similar compensatory mechanisms were employed to overcome various cognitive deficits in PD and Alzheimer's disease. © 2017 International Parkinson and Movement Disorder Society., (© 2017 International Parkinson and Movement Disorder Society.)

Historically, magnetic resonance imaging (MRI) has contributed little to the study of Parkinson's disease (PD), but modern MRI approaches have unveiled several complementary markers that are useful for research and clinical applications. Iron- and neuromelanin-sensitive MRI detect qualitative changes in the substantia nigra. Quantitative MRI markers can be derived from diffusion weighted and iron-sensitive imaging or volumetry. Functional brain alterations at rest or during task performance have been captured with functional and arterial spin labeling perfusion MRI. These markers are useful for the diagnosis of PD and atypical parkinsonism, to track disease progression from the premotor stages of these diseases and to better understand the neurobiological basis of clinical deficits. A current research goal using MRI is to generate time-dependent models of the evolution of PD biomarkers that can help understand neurodegeneration and provide reliable markers for therapeutic trials. This article reviews recent advances in MRI biomarker research at high-field (3T) and ultra high field-imaging (7T) in PD and atypical parkinsonism. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society., (© 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.)

Background: We studied whether 1 session of high-frequency repetitive transcranial magnetic stimulation (rTMS) applied sequentially over both the left and right inferior frontal gyri (IFG) would enhance performance in tests evaluating the ability to inhibit habitual responses (Stroop test, ST; Frontal Assessment Battery, FAB) in patients with Parkinson's disease (PD)., Methods: Ten nondemented PD patients (6 men, 4 women; age, 66 ± 6 years; disease duration, 5.4 ± 2.45 years) entered the randomized, sham stimulation-controlled study with a crossover design. The ST and the FAB were performed prior to and immediately after an appropriate rTMS session., Results: The active but not sham rTMS induced significant improvement in all ST subtests (word, color, color-word). Conversely, the calculated Stroop interference and the FAB scores remained unchanged., Conclusions: In PD patients, rTMS of the IFG increased the speed of cognitive processing in both the congruent and incongruent conditions of the ST., (Copyright © 2011 Movement Disorder Society.)

We studied whether the (123)I-FP-CIT uptake in the striatum correlates with depressive symptoms and cognitive performance in patients with Parkinson's disease (PD). Twenty patients with PD without major depression and/or dementia (mean age 61.7 +/- 12.7 years) underwent the (123)I-FP-CIT SPECT. Depressive symptoms and cognitive performance were assessed in the ON state. The ratios of striatal to occipital binding for the entire striatum, putamina, and putamen to the caudate (put/caud) index were calculated in the basal ganglia. The association between neuropsychiatric measures and dopamine transporter (DAT) availability was calculated; multiple regression analysis was used to assess association with age and disease duration. We found significant correlations between Montgomery and Asberg Depression Rating Scale (MARDS) and Tower of London (TOL) task scores and (123)I-FP-CIT uptake in various striatal ROIs. Multiple regression analysis confirmed the significant relationship between TOL performance and put/caud ratio (P = 0.001) and to age (P = 0.001), and between MADRS and left striatal (P = 0.005) and putaminal DAT availability (P = 0.003). Our pilot study results demonstrate that imaging with (123)I-FP-CIT SPECT appears to be sensitive for detecting dopaminergic deficit associated with mild depressive symptoms and specific cognitive dysfunction in patients with PD, yet without a current depressive episode and/or dementia., ((c) 2008 Movement Disorder Society.)

Parkinson's disease (PD) affects speech, including respiration, phonation, and articulation. We measured the blood oxygen level-dependent (BOLD) response to overt sentence reading in: (1) 9 treated female patients with mild to moderate PD (age; mean 66.0 +/- 11.6 years, mean levodopa equivalent 583.3 +/- 397.9 mg) and (2) 8 age-matched healthy female controls (age; mean 62.2 years +/- 12.3). Speech was recorded in the scanner to assess which brain regions underlie variations in the initiation and paralinguistic aspects (e.g., pitch, loudness, and rate) of speech production in the two groups. There were no differences in paralinguistic aspects of speech except for speech loudness; it was lower in PD patients compared with that in controls, when age was used as a covariate. In both groups, we observed increases in the BOLD response (reading-baseline) in brain regions involved in speech production and perception. In PD patients, as compared with controls, we found significantly higher BOLD signal in the right primary orofacial sensorimotor cortex and more robust correlations between the measured speech parameters and the BOLD response to reading, particularly, in the left primary orofacial sensorimotor cortex. These results might reflect compensatory mechanisms and/or treatment effects that take place in mild to moderately ill PD patients with quality of speech yet comparable with that of age-matched controls., ((c) 2007 Movement Disorder Society.)