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Background: Non-fluent/agrammatic variant of Primary Progressive Aphasia (avPPA) is primarily characterized by language impairment due to atrophy of the inferior frontal gyrus and the insula cortex in the dominant hemisphere. The Screening for Aphasia in NeuroDegeneration (SAND) battery has been recently proposed as a screening tool for PPA, with several tasks designed to be specific for different language features. Applying multivariate approaches to neuroimaging data and verbal fluency tasks, Aachener Aphasie Test (AAT) naming subtest and SAND data may help in elucidating the neuroanatomical correlates of language deficits in avPPA. Objective: To investigate the neuroanatomical correlates of language deficits in avPPA using verbal fluency tasks, AAT naming subtest and SAND scores as proxies of brain structural imaging abnormalities. Methods: Thirty-one avPPA patients were consecutively enrolled and underwent extensive neuropsychological assessment and MRI scan. Raw scores of verbal fluency tasks, AAT naming subtest, and SAND subtests, namely living and non-living picture naming, auditory sentence comprehension, single-word comprehension, words and non-words repetition and sentence repetition, were used as proxies to explore structural (gray matter volume) neuroanatomical correlates. We assessed univariate (voxel-based morphometry, VBM) as well as multivariate (source-based morphometry, SBM) approaches. Age, gender, educational level, and disease severity were considered nuisance variables. Results: SAND picture naming (total, living and non-living scores) and AAT naming scores showed a direct correlation with the left temporal network derived from SBM. At univariate analysis, the left middle temporal gyrus was directly correlated with SAND picture naming (total and non-living scores) and AAT naming score. When words and non-words repetition (total score) was considered, a direct correlation with the left temporal network (SBM) and with the left fusiform gyrus (VBM

This study (i) conducted a meta-analysis to examine whether relatives of schizophrenia patients (FRs) have structural or functional abnormalities in the brain when compared to healthy controls, (ii) conducted original studies whether familial, genetic, or symptomatic risk for psychosis is related to physiological fluctuation in the brain, and (iii) examined whether those brain-level abnormalities at risk for psychosis overlap with the regions that exhibit abnormalities in schizophrenia patients (using the BrainMap database). In the meta-analysis, we included altogether 39 studies (1639 FRs; 1734 controls) that examined differences between FRs and healthy controls using voxel-based morphometry (VBM) or functional magnetic resonance imaging (fMRI). In the original studies, we used the Northern Finland Birth Cohort 1986 data (N=140–277). All the participants underwent fMRI scan at rest. Symptomatic risk for psychosis was assessed with a structured psychiatric interview. Familial risk for psychosis was defined on the basis of parents’ previous psychoses. Polygenic risk score for schizophrenia was computed on the basis of previous genome-wide association studies. Physiological fluctuation was measured with the coefficient of variation of the blood-oxygenation-level-dependent (BOLD) signal (CVBOLD). In the meta-analysis, no differences were found in the gray matter volume. FRs (vs. healthy controls) had higher activity in the right inferior frontal gyrus during cognitive tasks. The alterations in FRs were very restricted when compared to the brain regions affected in schizophrenia patients. In the original studies, symptomatic risk (but not familial or genetic risk) for psychosis was linked to higher physiological fluctuation in such brain regions that overlapped only slightly with the regions that exhibited alterations in schizophrenia patients in previous fMRI studies (using traditional analyzing methods). There may be functional abnormalities during cognitive, Tiivistelmä Tutkimuksessa (i) selvitettiin meta-analyysillä, onko skitsofreniapotilaiden 1. asteen sukulaisilla rakenteellisia tai toiminnallisia poikkeamia aivoissa verrattuna terveisiin kontrolleihin, (ii) tehtiin alkuperäistutkimusta siitä, liittyykö psykoosin familiaalinen, geneettinen tai oirepohjainen riski aivojen fysiologiseen vaihteluun, ja (iii) tutkittiin, sijoittuvatko ko. psykoosiriskiin liittyvät poikkeamat aivoissa päällekkäin niiden alueiden kanssa, joilla ilmenee poikkeamia skitsofreniapotilailla (käyttäen BrainMap-datakantaa). Meta-analyysiin sisältyi yhteensä 39 tutkimusta (1639 skitsofreniapotilaiden sukulaista; 1734 tervettä kontrollia), joissa tutkittiin eroja ryhmien välillä käyttäen vokselipohjaista morfometriaa (VBM) tai toiminnallista magneettikuvantamista (fMRI). Alkuperäistutkimuksissa käytettiin Pohjois-Suomen vuoden 1986 syntymäkohortti -aineistoa (N = 140–277). Oirepohjainen psykoosiriski arvioitiin strukturoidulla psykiatrisella haastattelulla. Familiaalinen riski psykoosille määriteltiin vanhempien psykoositaustan perusteella. Skitsofrenian polygeeninen riski laskettiin aiempien genomilaajuisten tutkimusten pohjalta. Fysiologisen vaihtelun mittarina käytettiin BOLD-signaalin varianssikerrointa (CVBOLD). Meta-analyysissä eroja ei havaittu harmaan aineen tilavuudessa. Skitsofreniapotilaiden sukulaisilla oli korkeampi aktivaatio oikeanpuoleisessa alemmassa otsalohkopoimussa verrattuna terveisiin kontrolleihin. Skitsofreniapotilaiden sukulaisilla havaitut poikkeamat olivat selvästi suppeampia verrattaessa skitsofreniapotilaisiin. Alkuperäistutkimuksissa psykoosin oirepohjainen riski (mutta ei familiaalinen tai geneettinen riski) liittyi korkeampaan fysiologiseen vaihteluun aivoalueilla, jotka olivat vain niukasti päällekkäisiä niiden alueiden kanssa, joilla on havaittu poikkeamia skitsofreniapotilailla aiemmissa fMRI-tutkimuksissa (käyttäen perinteisiä analyysimenetelmiä). Skitsofreniapotilaiden 1. asteen sukulaisilla (vs. terveillä kont

PURPOSE: The purpose of this study was to evaluate longitudinal changes in brain gray matter density (GMD) before and after adjuvant chemotherapy in older women with breast cancer. METHODS: We recruited 16 women aged ≥ 60 years with stage I-III breast cancers receiving adjuvant chemotherapy (CT) and 15 age- and sex-matched healthy controls (HC). The CT group underwent brain MRI and the NIH Toolbox for Cognition testing prior to adjuvant chemotherapy (time point 1, TP1) and within 1 month after chemotherapy (time point 2, TP2). The HC group underwent the same assessments at matched intervals. GMD was evaluated with the voxel-based morphometry. RESULTS: The mean age was 67 years in the CT group and 68.5 years in the HC group. There was significant GMD reduction within the chemotherapy group from TP1 to TP2. Compared to the HC group, the CT group displayed statistically significantly greater GMD reductions from TP1 to TP2 in the brain regions involving the left anterior cingulate gyrus, right insula, and left middle temporal gyrus (pFWE(family-wise error)-corrected < 0.05). The baseline GMD in left insula was positively correlated with the baseline list-sorting working memory score in the HC group (pFWE-corrected < 0.05). No correlation was observed for the changes in GMD with the changes in cognitive testing scores from TP1 to TP2 (pFWE-corrected < 0.05). CONCLUSIONS: Our findings indicate that GMD reductions were associated with adjuvant chemotherapy in older women with breast cancer. Future studies are needed to understand the clinical significance of the neuroimaging findings. This study is registered on ClinicalTrials.gov (NCT01992432).

In this case-cohort study, we used data-driven computational anatomy approaches to assess within and between sex spatial differences in proximal femoral bone characteristics in relation to incident hip fracture. One hundred male and 234 female incident hip fracture cases, and 1047 randomly selected noncase subcohort participants (562 female) were chosen from the population-based AGES-Reykjavik study (mean age of 77 years). The baseline -i.e. before hip fracture- hip quantitative computed tomography scans of these subjects were analyzed using voxel-based morphometry, tensor-based morphometry, and surface-based statistical parametric mapping to assess the spatial distribution of volumetric bone mineral density (vBMD), internal structure, and cortical bone properties (thickness, vBMD and trabecular vBMD adjacent to the endosteal surface) of the proximal femur, respectively, in relation to incident hip fracture. Results showed that in both men and women: 1) the superior aspect of the femoral neck and the trochanteric region (except for cortical bone thickness) were consistently identified as being associated with incident hip fracture, and 2) differences in bone properties between noncases and incident hip fracture cases followed similar trends, were located at compatible regions, and manifested heterogeneity in the spatial distribution of their magnitude with focal regions showing larger differences. With respect to sex differences, most of the regions with a significant interaction between fracture group and sex showed: 1) differences of greater magnitude in men between noncases and incident hip fracture cases with different spatial distributions for all bone properties with the exception of cortical bone thickness, and 2) that while most of these regions showed better bone quality in male cases than in female cases, female cases showed higher vBMD in the principal compressive group and higher endotrabecular vBMD at several regions including the anterior, posterior, a

HR-pQCT enables in vivo multi-parametric assessments of bone microstructure in the distal radius and distal tibia. Conventional HR-pQCT image analysis approaches summarize bone parameters into global scalars, discarding relevant spatial information. In this work, we demonstrate the feasibility and reliability of statistical parametric mapping (SPM) techniques for HR-pQCT studies, which enable population-based local comparisons of bone properties. We present voxel-based morphometry (VBM) to assess trabecular and cortical bone voxel-based features, and a surface-based framework to assess cortical bone features both in cross-sectional and longitudinal studies. In addition, we present tensor-based morphometry (TBM) to assess trabecular and cortical bone structural changes. The SPM techniques were evaluated based on scan-rescan HR-pQCT acquisitions with repositioning of the distal radius and distal tibia of 30 subjects. For VBM and surface-based SPM purposes, all scans were spatially normalized to common radial and tibial templates, while for TBM purposes, rescans (follow-up) were spatially normalized to their corresponding scans (baseline). VBM was evaluated based on maps of local bone volume fraction (BV/TV), homogenized volumetric bone mineral density (vBMD), and homogenized strain energy density (SED) derived from micro-finite element analysis; while the cortical bone framework was evaluated based on surface maps of cortical bone thickness, vBMD, and SED. Voxel-wise and vertex-wise comparisons of bone features were done between the groups of baseline and follow-up scans. TBM was evaluated based on mean square errors of determinants of Jacobians at baseline bone voxels. In both anatomical sites, voxel- and vertex-wise uni- and multi-parametric comparisons yielded non-significant differences, and TBM showed no artefactual bone loss or apposition. The presented SPM techniques demonstrated robust specificity thus warranting their application in future clinical HR-pQCT st

The ability to read the minds of others in their eyes plays an important role in human adaptation to social environments. Behavioral studies have resulted in the development of a test to measure this ability (Reading the Mind in the Eyes Test, revised version; Eyes Test), and have demonstrated that this ability is consistent over time. Although functional neuroimaging studies revealed brain activation while performing the Eyes Test, the structural neural substrates supporting consistent performance on the Eyes Test remain unclear. In this study, we assessed the Eyes Test and analyzed structural magnetic resonance images using voxel-based morphometry (VBM) in healthy participants. Test performance was positively associated with the gray matter volumes of the dorsomedial prefrontal cortex, inferior parietal lobule (temporoparietal junction), and precuneus in the left hemisphere. These results suggest that the fronto-temporoparietal network structures support the consistent ability to read the mind in the eyes.

Uvod: Nedavno je otkriveno da nosioci mutacija u genu za glukocerebrozidazu (GBA), kako u homozigotnom stanju, kod pacijenata koji imaju Gošeovu bolest (GB), tako i kod heterozigotnih nosilaca ove mutacije, imaju veću šansu da obole od Parkinsonove bolesti (PB). Prema literaturnim podacima, klinička slika Parkinsonove bolesti kod nosilaca mutacije u GBA genu, slična je fenotipu sporadične forme. Ciljevi: Utvrđivanje učestalosti GBA mutacija u grupi pacijenata sa PB u Srbiji i karakterizacija genotipa. Određivanje specifičnosti kliničkog ispoljavanja PB kod heterozigotnih i homozigotnih nosilaca GBA mutacija i utvrđivanje genotipsko-fenotipske korelacije. Utvrđivanje neuroimidžing karakteristika PB pacijenata sa GBA mutacijama, zdravih nosilaca GBA mutacija i pacijenata sa GB. Materijal i metode: Analiza egzona 8-11 GBA gena obavljena je kod 644 PB pacijenta i 368 zdravih kontrola. Pored toga, pregledano je 18 pacijenata sa GB i njihovih 14 srodnika prvog stepena koji su obavezni nosioci GBA mutacija. Nakon određivanja GBA statusa i prisustva PB kod ovih ispitanika, formirane su grupe za dalju analizu. Dizajn po tipu studije preseka korišćen je za računanje odnosa šansi prisustva GBA mutacije u ispitivanim grupama, kao i za utvrđivanje osnovnih kliničkih karakeristika PB kod nosilaca GBA mutacija. Dizajn po tipu studije slučajeva i kontrola korišćen je za utvrđivanje nemotornih karakteristika kao i imidžing razlika kod PB udružene sa GBA mutacijama u poređenju sa sporadičnom PB (bez mutacija u GBA genu, sPB). Ekstenzivna testiranja za procenu kognitivnih, bihejvioralnih, motornih i nemotornih karakteristika uključile su: Unified Parkinson Disease Rating Scale (UPDRS), Hoehn i Yahr stadijum PB, Mini Mental State Examination (MMSE), Hamiltonovu skalu depresivnosti, Hamiltonovu skalu anksioznosti, Bekovu skalu za depresiju, skalu apatije, upitnik nemotornih simptoma, Adenbruksovo kognitivno ispitivanje i Bostonski test nominacije. Pregled mozga je obavljen na aparatu za, INTRODUCTION: It was found recently that homozygous carriers of mutations in the gene encoding for glucocerebrosidase (GBA)- Gaucher’s disease (GD) patients, and heterozygous carriers of GBA mutations, are in greater risk to develop Parkinson’s disease (PD). According to literature, clinical presentation of such PD is similar to that in sporadic PD. Goals: To estimate GBA mutation frequency among PD patients in Serbia and to determine GBA genotype. To determine clinical presentation of PD patienets who are heterozygous or homozygous carriers od GBA mutations and to determine genotype-phenotype correlation. To determine neuroimaging characteristics PD patients with GBA mutations, GD patients and healthy carriers of GBA mutations. MATERIAL AND METHODS: Sequencing of exons 8-11 of GBA gene was performed on 644 PD patients and 368 healthy controls. Also, 18 GD patients and 14 of their first degree relatives, who are obligate carriers of GBA mutation, were included. After determining GBA status and the presence of PD signs, adequate groups were formed for further analysis. Cross-sectional study was used to determine odds ratio for presence of GBA mutations among PD patients and their basic clinical characteristics comparing to healthy controls. Case control study design was used for analysis of non-motor characteristics and imaging differences in between PD groups with and without GBA mutations. Motor, non-motor, cognitive and behavioral characteristics were assessed using Unified Parkinson Disease Rating Scale, Hoehn and Yahr scale, Mini Mental State Examination, Hamilton depression scale, Hamilton anxiety scale, Beck depression inventory, Apathy scale, Non-motor symptoms questionnaire, Addenbrooks cognitive examination and Boston naming test. MRI analysis was obtained with 1.5 T. Images were used for analysis of the white matter hyperintense lesions load, grey matter volume using voxel-based morphometry (VBM) and assessment of white matter tracts with diffusion tensor

Uvod: Miotonična distrofija tipa 1 (MD1) je autozomno-dominantno nasledno oboljenje, koje pored mišića, zahvata mnoga druga tkiva i organe, uključujući i mozak. Zahvaćenost centralnog nervnog sistema (CNS) u MD1 podrazumeva neuropsihološke i bihevioralne poremećaje. Razvoj savremenih neurovizualizacionih tehnika i molekularne medicine omogućava bolje sagledavanje uzroka moždanih poremećaja. Ciljevi: Određivanje neuropsihološkog i bihevioralnog profila bolesnika sa MD1, ispitivanje morfoloških specifičnosti njihovog mozga i analiza nivoa biomarkera neurodegeneracije u likvoru. Materijal i metode: Ispitivano je 66 bolesnika kod kojih je dijagnoza MD1 potvrđena molekularno-genetskom analizom. Stepen mišićne slabosti određivan je prema MIRS (Muscular Impairment Rating Scale). U istraživanju je korišćena opsežna baterija klasičnih neuropsiholoških testova, kao i obiman set kompjuterskih testova iz baterije CANTAB (Cambridge Neuropsychological Test Automated Battery). U studiji su korišćene sledeće skale: Hamiltonove skale za procenu depresije i anksioznosti, Milonov multiaksijalni klinički upitnik (MMCI) za poremećaje ličnosti, DSS skala za merenje prekomerne dnevne pospanosti (PDP) i Kruppova skala za težinu zamora (FSS). Kod bolesnika i 38 zdravih kontrola pregled mozga je obavljen na aparatu za magnetnu rezonanciju (MR) jačine 1,5 T. Na snimcima je određivano ukupno opterećenje hiperintenznim lezijama bele mase (HLBM), zapremina sive mase mozga pomoću morfometrije zasnovane na vokselu (VBM) i analiza puteva bele mase metodom difuzionog tenzorskog imidžinga (DTI). Transkranijalna sonografija mozga (TCS) korišćena je za analizu struktura srednje linije moždanog stabla kod bolesnika i 55 zdravih kontrola. Nivo ukupnog i fosforilisanog tau proteina (T-tau i P-tau) i beta amiloida 42 (Aβ42) u likvoru bolesnika i 26 neurološki zdravih kontrola određivan je metodom sendvič ELISA. Rezultati: Vizuospacijalna disfunkcija je uočena kod 80 %, egzekutivna disfunkcija kod 67 %, a o, Background: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease, that besides muscle affects many other tissues and organs, including the central nervous system. Brain manifestations in DM1 include neuropsychological and behavioral impairment. Development of modern neuroimaging and molecular medicine enables better insight in possible causes of the central nervous system involvement in DM1. Aims: Assessment of neuropsychological and behavioral profile of DM1 patients, structural analysis of their brain and investigation of cerebrospinal fluid biomarkers of neurodegeneration. Material and methods: Study comprised 66 genetically confirmed DM1 patients. Severity of muscle weakness was assessed using the Muscular Impairment Rating Scale (MIRS). Extensive battery of classic pen and pencil tests and Cambridge Neuropsychological Test Automated Battery (CANTAB) were used. Following measures were also administered: Hamilton depression and anxiety scales, Millon Multiaxial Clinical Inventory (MMCI) for personality pattern, Daytime Sleepiness Scale (DSS) and Krupp’s Fatigue Severity Scale (FSS). Magnetic resonance imaging on 1.5 T equipment was performed in patients and 38 healthy controls (HCs). Images were used for analysis of the white matter hyperintense lesions (WMHL) load, grey matter volume using voxel-based morphometry (VBM) and assessment of white matter tracts with diffusion tensor imaging (DTI). Transcranial sonography (TCS) was used for analysis of the brainstem midline structures in patients and 55 HCs. Cerebrospinal fluid levels of total and phosphorylated tau protein (T-tau and P-tau) as well as beta amyloid 42 (Aβ42) were analyzed in patients and 26 HCs using sandwich ELISA. Results: Visuospatial dysfunction was observed in 80 % of DM1 patients, executive dysfunction in 67 % and naming was impaired in 62 %. Significant depressiveness was registered in 15 % and anxiety in 11 % of patients, excessive daytime sleepiness in 44 % and fatigue in 52 %. Cl

BACKGROUND Restless legs syndrome (RLS) is a common neurological disorder the pathophysiology of which is incompletely understood. Four studies have examined structural differences between the brains of RLS patients and healthy controls, using voxel-based morphometry (VBM). All 4 studies have provided different results. METHODS Optimized VBM was used to search for structural differences in gray matter density. Sixteen RLS patients naive to dopaminergic drugs and 16 age-and sex-matched controls received structural T1-weighted MR scans. Structural data were analyzed using FSL-VBM. RESULTS No difference in gray matter density was detected between the two groups (voxel-wise significance: no significant voxels at P = .89 (whole brain Family Wise Error (FWE) corrected); no significant voxels at P < .05 (whole brain False Discovery Rate (FDR) corrected; smallest achievable FDR threshold .99). CONCLUSION/DISCUSSION The present study did not replicate (confirm) previous findings of structural brain changes in RLS, but instead supported the findings of a recent study showing a lack of gray matter alteration in an elderly RLS population. More specifically, the results do not support neuronal loss as an underlying disease mechanism in RLS. Potential limitations in the application of VBM are also discussed.