Cognitive Affective Syndrome Research Articles

Cerebellar cognitive affective syndrome and vertebrobasilar ischemia. From cerebello-cerebral diaschisis to "dysmetria of thought"

Cerebellum, along with it' s role in coordinating motor functions, exercises a significant regulatory influence in fields of cognitive and affective functions. Therefore, studying the effect of cerebrovascular atherosclerotic pathology on mood and cognition should not be limited to stenotic dysfunctions of carotid arteries, but also extend its methodological framework to the consideration of the integrity of vertebrobasilar system (VBS), cerebellar perfusion and posterior cerebral circulation in general, as it has not been yet sufficiently addressed whether VBS insufficiency is associated with deterioration of patients' mental and emotional status and quality of life (QoL). Vertebrobasilar circulatory dysfunction has been pointed out, since decades, as a cause of progressive memory impairment and dementia, due to multiple infarcts in cerebral areas which are topographically critical for mental and emotional functions. Indicative of the pathophysiological and anatomic-functional association of VBS with these neuro-psychiatric domains are cerebellar cognitive-affective syndrome (CCAS) and crossed cerebello-cerebral diaschisis (CCCD). Mental and psychiatric components of CCAS, along with ataxic motor disability, constitute the conceptual hypothesis of "dysmetry of thought", while diagnostic significance of mental dysfunctions and psychopathological manifestations, in terms of symptoms preceding motor impairments that ascribe cerebellar malfunction in the epicenter of their pathophysiology, such as cerebellar ataxias, in which, early recognition of CCAS may facilitate therapeutic interventions aimed at improving QoL, reveal that cerebellar pathology, either of degenerative etiology or vascular substrate on the ground of vertebrobasilar insufficiency (VBI) or other surgical conditions of the posterior fossa, is associated with deterioration of patients' QoL which is related to significant impairments in their cognitive functions with (co)manifested emotional disorders. Studies in animal models also support these conclusions. Since VBI is responsible for a wide range of psychiatric and neurological symptoms, new findings concurred with current indications advocating that, without consideration of VBS disorders, it is impossible to clarify the connection of cerebral perfusion dysfunctions to neurocognitive deficits. The inclusion of cerebellar perfusion disorders in scientific research and clinical approaches to cognitive and affective disorders that may occur in patients with cerebrovascular lesions constitutes a paradigm of best clinical practices implementation and interdisciplinary convergence of neurosciences and vascular medicine.

Features of the course of hydrocephalus in children after removal of a tumor of the posterior cranial fossa in the near and long term

The article presents the results of a study of the dynamics of the development of persistent hydrocephalus in children after surgical removal of a tumor of the posterior cranial fossa in the early and late postoperative period. The analysis of the incidence of neuropsychological syndromes: cerebellar cognitive-affective syndrome and cerebellar mutism syndrome in children of this group was carried out. Retrospective analysis included 30 patients under 18 years of age with a diagnosis tumor of the posterior cranial fossa complicated by occlusive hydrocephalus. All patients were operated on in the conditions of the Department of Neurosurgery for Children No. 7 of the Almazov National Medical Research Centre. As a result of the study, the risk groups for maintaining hydrocephalus after removal of the tumor of the posterior cranial fossa were determined, and the frequency of occurrence of neuropsychological syndromes in the postoperative period was determined.

The Hungarian validation of the Cerebellar Cognitive-Affective Syndrome Scale

Bevezetés: A cerebelláris kognitív-affektív szindróma olyan tünetegyüttest jelent, amely a motoros és végrehajtó funkciók zavarán túl a memória, a váltás-gátlás, a konceptualizálás és az érzelem és viselkedés szabályozásában is megnyilvánulhat. A szindróma felmérésére dedikált magyar nyelvű mérőeszköz eddig nem állt a hazai szakemberek rendelkezésére. Célkitűzés: A kutatás célja volt a Cerebelláris Kognitív-Affektív Szindróma Skála (CCAS-H) magyar mintán történő validációja, diagnosztikus érvényességének felmérése, valamint a teszt közzététele a szakemberek számára. Módszer: Multicentrikus kutatási elrendezésben, hat kórházi osztállyal való együttműködés keretében cerebelláris érintettségű páciensekkel és kontrollszemélyekkel történtek tesztfelvételek 2021. 07. 12. és 2023. 12. 31. között. A statisztikai elemzések során normalitástesztelést, leíró statisztikát, átlagok tesztelését, korrelációszámításokat, valamint ROC-elemzést végeztünk, Cronbach-alfa-értékeket, Cohen-féle kappát határoztunk meg. A normalitás sérülése esetén robusztus próbákat választottunk. Eredmények: 54 cerebelláris és 40 kontrollszeméllyel történt tesztfelvétel, amelyekből különböző alcsoportokat képeztünk. Mintánkban az életkor (r = –0,581***, df = 87, p<0,001) és az iskolázottság (r = 0,360***, df = 87, p<0,001) szignifikáns együttjárást mutatott az összpontszámokkal. A CCAS-H megfelelő belső konzisztenciájú (α = 0,771), teszt-reteszt vizsgálat alapján stabil (r = 0,793***, df =13, p<0,001), és megítélők közti 88,2%-os egyetértést mutatott (𝜅 = 0,779, z = 4,79, p<0,001). A fals pozitív esetek csökkentése érdekében a szindrómát előre jelző vágópontokat megemeltük, így 5 hibapontnál felmerül (szenzitivitás: 100%, specificitás: 43,48%), 6 hibapontnál valószínű (szenzitivitás: 90,91%, specificitás: 62,32%), 7 hibapontnál határozott (szenzitivitás: 81,82%, specificitás: 73,91%) a szindróma előfordulásának valószínűsége (AUC: 0,836). Megbeszélés: Az elemzések a nemzetközi ajánlásoknak megfelelően készültek. Az eredeti és más validált változatokhoz képest a magyar verzió nagyobb belső konzisztenciát mutatott. A skála stabil és megbízhatóan alkalmazható, emellett ismertetjük a teszt adta újabb kutatási kérdéseket. Következtetés: Az újonnan validált skála alkalmas mérőeszköz a szindróma mérésére. Tanulmányunkkal elérhetővé tettük a CCAS-H-t a magyar szakemberek számára. Orv Hetil. 2024; 165(20): 785–798.

Cerebellum's Contribution to Attention, Executive Functions and Timing: Psychophysiological Evidence from Event-Related Potentials.

Since 1998, when Schmahmann first proposed the concept of the "cognitive affective syndrome" that linked cerebellar damage to cognitive and emotional impairments, a substantial body of literature has emerged. Anatomical, neurophysiological, and functional neuroimaging data suggest that the cerebellum contributes to cognitive functions through specific cerebral-cerebellar connections organized in a series of parallel loops. The aim of this paper is to review the current findings on the involvement of the cerebellum in selective cognitive functions, using a psychophysiological perspective with event-related potentials (ERPs), alone or in combination with non-invasive brain stimulation techniques. ERPs represent a very informative method of monitoring cognitive functioning online and have the potential to serve as valuable biomarkers of brain dysfunction that is undetected by other traditional clinical tools. This review will focus on the data on attention, executive functions, and time processing obtained in healthy subjects and patients with varying clinical conditions, thus confirming the role of ERPs in understanding the role of the cerebellum in cognition and exploring the potential diagnostic and therapeutic implications of ERP-based assessments in patients.

The cerebellum and cognitive neural networks.

Cognitive function represents a complex neurophysiological capacity of the human brain, encompassing a higher level of neural processing and integration. It is widely acknowledged that the cerebrum plays a commanding role in the regulation of cognitive functions. However, the specific role of the cerebellum in cognitive processes has become a subject of considerable scholarly intrigue. In 1998, Schmahmann first proposed the concept of "cognitive affective syndrome (CCAS)," linking cerebellar damage to cognitive and emotional impairments. Since then, a substantial body of literature has emerged, exploring the role of the cerebellum in cognitive neurological function. The cerebellum's adjacency to the cerebral cortex, brainstem, and spinal cord suggests that the cerebral-cerebellar network loops play a crucial role in the cerebellum's participation in cognitive neurological functions. In this review, we comprehensively examine the recent literature on the involvement of the cerebellum in cognitive functions from three perspectives: the cytological basis of the cerebellum and its anatomical functions, the cerebellum and cognitive functions, and Crossed cerebellar diaschisis. Our aim is to shed light on the role and mechanisms of the cerebellum in cognitive neurobrain networks.

Coordination and Cognition in Pure Nutritional Wernicke's Encephalopathy with Cerebellar Degeneration after COVID-19 Infection: A Unique Case Report.

Alcoholic cerebellar degeneration is a restricted form of cerebellar degeneration, clinically leading to an ataxia of stance and gait and occurring in the context of alcohol misuse in combination with malnutrition and thiamine depletion. However, a similar degeneration may also develop after non-alcoholic malnutrition, but evidence for a lasting ataxia of stance and gait and lasting abnormalities in the cerebellum is lacking in the few patients described with purely nutritional cerebellar degeneration (NCD). We present a case of a 46-year-old woman who developed NCD and Wernicke's encephalopathy (WE) due to COVID-19 and protracted vomiting, resulting in thiamine depletion. We present her clinical course over the first 6 months after the diagnosis of NCD and WE, with thorough neuropsychological and neurological examinations, standardized clinical observations, laboratory investigations, and repeated MRIs. We found a persistent ataxia of stance and gait and evidence for an irreversible restricted cerebellar degeneration. However, the initial cognitive impairments resolved. Our study shows that NCD without involvement of alcohol neurotoxicity and with a characteristic ataxia of stance and gait exists and may be irreversible. We did not find any evidence for lasting cognitive abnormalities or a cerebellar cognitive-affective syndrome (CCAS) in this patient.

THE IMPACT OF SELECTED NEUROPSYCHOLOGICAL BRAIN DYSFUNCTIONS ON THE CRIMINAL RESPONSIBILITY OF THE PERPETRATOR

Knowledge of clinical neuropsychology is of great importance in determining the possibility of holding the perpetrator criminally responsible and determining the scope of that responsibility. In the case of head injuries, the age of the brain, neurobiological and functional plasticity, brain resources, types and depth of dysfunction, as well as the assessment of the effects of current and planned therapy are important when assessing effects of determining responsibility. Findings in the field of clinical neuropsychology may be helpful especially in determining the subjective side (intention) of the perpetrator of the prohibited act, but above all – sanity (capacity). One of the grounds for declaring lack of criminal responsibility is “another disturbance of mental functions” (Article 31(1) Polish Criminal Code (CrC), which may include many neuropsychological conditions, such as frontal lobe syndromes, temporal lobe syndromes, frontotemporal disorders, temporal lobe epilepsy, limbic thalamus disorder, or cerebellar cognitive-affective syndrome. They cause cognitive or emotional deficits that may result in abolishing or limiting to a large extent the ability to recognize the meaning of an act or to control one’s own behavior. Certain neuropsychological findings may be important in determining that an act was committed under the influence of error, for example, in the case of agnosia – that is, the inability to recognize or interpret stimuli regardless of the channel. This text will mainly present selected neuropsychological deficits and their impact on the criminal responsibility of the perpetrator in the context of Article 31 Polish Criminal Code.

Cerebellar mutism syndrome: From pathophysiology to rehabilitation.

Cerebellar mutism syndrome (CMS) is a common complication following surgical resection of childhood tumors arising in the posterior fossa. Alteration of linguistic production, up to muteness and emotional lability, generally reported at least 24h after the intervention, is the hallmark of post-operative CMS. Other associated traits include hypotonia and other cerebellar motor signs, cerebellar cognitive-affective syndrome, motor deficits from the involvement of the long pathways, and cranial neuropathies. Recovery usually takes 6 months, but most children are burdened with long-term residual deficits. The pathogenic mechanism is likely due to the damage occurring to the proximal efferent cerebellar pathway, including the dentate nucleus, the superior cerebellar peduncle, and its decussation in the mesencephalic tegmentum. Proven risk factors include brain stem invasion, diagnosis of medulloblastoma, midline localization, tumor size, invasion of the fourth ventricle, invasion of the superior cerebellar peduncle, left-handedness, and incision of the vermis. Currently, rehabilitation is the cornerstone of the treatment of patients with cerebellar mutism syndrome, and it must consider the three main impaired domains, namely speech, cognition/behavior, and movement.

Prevalence of Sexual Harassment Toward and Burnout Among Allied Healthcare Professionals

Purpose: Burnout is a psychological cognitive-affective syndrome that is defined by emotional exhaustion, depersonalization, and reduced accomplishment. Burnout has been identified as a common issue in several allied healthcare professions, and is often contributed to by stress, workload, and social support. At the time of this study, there appears to be no published research on the relationship between levels of sexual harassment and levels of burnout. The purpose of this was to describe the prevalence of burnout and sexual harassment among allied healthcare professionals and students. A secondary purpose was to examine the potential relationship between sexual harassment and burnout among allied healthcare professionals and students. Methods: A total of 173 allied healthcare professionals and students (age= 43 ± 13, years of certified experience = 17 ± 12) opened and completed the instrument. Participants were sent an electronic survey via email that collected demographic information and assessed levels of burnout and sexual harassment. Data was downloaded and analyzed using a commercially available statistics package. Results: On average, allied healthcare professionals and students were at risk of burnout. There was a significant positive correlation between levels of burnout and sexual harassment. Additionally, females were significantly more likely to report workplace sexual harassment than males. Conclusions: The findings of this study suggest, on average, allied healthcare professionals and students are at risk of burnout. The findings also suggest that female allied healthcare professionals and students are more likely to experience burnout as a result of workplace sexual harassment. There is an evident need for employers to enhance policies and procedures to reduce and eliminate the occurrence of sexual harassment in the workplace. Doing so has the potential to reduce the risk of burnout among female allied healthcare professionals and students.

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (STUB1) gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48 (SCA48). SCA48 is characterized by an ataxic movement disorder that is often, but not always, accompanied by a cognitive affective syndrome. We report a severe early onset dementia syndrome that mimics frontotemporal dementia and is caused by the intronic splice donor variant c.524+1G>A in STUB1. Impaired splicing was demonstrated by RNA analysis and in minigene assays of mutated and wild-type constructs of STUB1. The most striking consequence of this splicing impairment was retention of intron 3 in STUB1, which led to an in-frame insertion of 63 amino acids (aa) (p.Arg175_Glu176ins63) into the highly conserved coiled-coil domain of its encoded protein, C-terminus of HSP70-interacting protein (CHIP). To a lesser extent, activation of two cryptic splice sites in intron 3 was observed. The almost exclusively used one, c.524+86, was not predicted by in silico programs. Variant c.524+86 caused a frameshift (p.Arg175fs*93) that resulted in a truncated protein and presumably impairs the C-terminal U-box of CHIP, which normally functions as an E3 ubiquitin ligase. The cryptic splice site c.524+99 was rarely used and led to an in-frame insertion of 33 aa (p.Arg175_Glu176ins33) that resulted in disruption of the coiled-coil domain, as has been previously postulated for complete intron 3 retention. We additionally detected repeat expansions in the range of reduced penetrance in the TATA box-binding protein (TBP) gene by excluding other genes associated with dementia syndromes. The repeat expansion was heterozygous in one patient but compound heterozygous in the more severely affected patient. Therefore, we concluded that the observed severe dementia syndrome has a digenic background, making STUB1 and TBP important candidate genes responsible for early onset dementia syndromes.

Implicit contextual learning in spinocerebellar ataxia.

Cerebellum is traditionally associated with motor functions, but recently its functions were broadened to include cognitive and affective functions as well. The impairment of these nonmotor functions was subsumed under the term cerebellar cognitive-affective syndrome (CCAS). Spinocerebellar ataxias (SCAs) are a family of hereditary degeneration, which is associated with progressive atrophy of the cerebellum. This study aimed to examine the cerebellar contribution to nonmotor implicit learning, which is the ability to acquire visual contextual information via repeated spatial configurations from the environment without conscious awareness in patients with SCA. Twenty patients with SCA and matched healthy controls performed implicit contextual learning task that is a nonmotor, implicit, visual learning task consisting displays of a target (letter T) and a number of distractors (letter L). We found implicit contextual learning impairment vis-à-vis spared visuomotor skill learning in SCA. Moreover, this impairment did not correlate with any other measure, including demographics, clinical measures, and neuropsychological measures. These findings broaden the role of cerebellum in nonmotor, implicit, spatial learning processes. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

ObjectiveTo better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by ELOVL4 mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin-derived fibroblasts.MethodsWe investigated a 5-generation French-Canadian kindred presenting with a late-onset cerebellar ataxia and recruited age- and education-matched controls to evaluate the presence of neurocognitive impairment. Immunohistochemistry of dermal fibroblasts derived from a patient's skin biopsy was performed.ResultsPatients had a late-onset slowly progressive cerebellar syndrome (mean age at onset 47 years; range 32–60 years) characterized by truncal and limb ataxia, dysarthria, hypometric saccades, and saccadic pursuits. No patient had past or current signs of erythrokeratodermia variabilis, which had previously been reported. MRI revealed cerebellar atrophy, with pontine atrophy (4 of 6 patients), and cruciform hypersignal in the pons (2 of 6 patients). Fluorodeoxyglucose-PET showed diffuse cerebellar hypometabolism in all 5 tested patients with subtle parietal hypometabolism in 3. Significant cognitive deficits were found in executive functioning, along with apparent visuospatial, attention, and psychiatric involvement. Immunohistochemistry of dermal fibroblasts showed mislocalization of the ELOVL4 protein, which appeared punctate and aggregated, supporting a dominant negative effect of the mutation on protein localization.ConclusionsOur findings support the pathogenicity of ELOVL4 mutations in cerebellar dysfunction and provide a detailed characterization of the SCA34 phenotype, with neurocognitive changes typical of the cerebellar cognitive-affective syndrome.

Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico-diagnostic findings were reviewed to define the phenotypic spectrum. Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. Our results support SCA48 as a significant cause of adult-onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.

Akinetic mutism and cognitive-affective syndrome caused by unilateral pica infarction

Akinetic mutism and cognitive-affective syndrome caused by unilateral pica infarction

Psychiatry intervention in cerebellar cognitive affective disorder: Case report

Background/objectivesCerebellar cognitive affective syndrome (CCAS) is a condition that arises from cerebellar lesions. CCAS can easily be overlooked by medical teams; therefore a bibliographic review will facilitate the understanding of symptoms in order to effectively diagnose and provide a holistic early treatment approach.MethodsA case report of a 72-year-old woman with bilateral cerebellar lesions with high pre-morbid function presented with classic symptoms of CCAS. Multidisciplinary workup included medical, psychiatric, neuropsychological assessment (R-BANS (Form 1), Digit Span, Verbal fluency tests, the Hayling Test, the Delis-Kaplan Executive Function System) as well as other investigations (neuroimaging and blood tests) were conducted on the patient to confirm CCAS and exclude other differential diagnoses.ResultsThe results from the medical assessments conducted showed symptoms of cerebellar dysfunction. A psychiatry and neuropsychological review revealed aggression, irritability, disinhibition, deterioration in cognitive function and personality changes. A multidisciplinary team was formed to rehabilitate the patient however patient was non-compliant with therapy. The patient was prescribed Seroquel 50 XR and she responded well to the medication.ConclusionThis case review illustrates the challenges associated with engaging a CCAS patient in rehabilitation activities due to cognitive and mood disorders. The use of psychotropic medications can be an effective method in improving cognition and mood disorders in CCAS patients. Early psychiatry and psychological intervention can significantly improve the overall outcome of a patient diagnosed with CCAS.Funding sourceNil.Disclosure of interestThe author has not supplied his declaration of competing interest.

A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7.

BackgroundThe natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a preliminary longitudinal characterisation of the clinical and cognitive profiles in patients with SCA1, SCA2, SCA3, SCA6 and SCA7, with the aim of elucidating the role of the cerebellum in cognition.Methods13 patients with different SCAs all caused by CAG repeat expansion (SCA1, n = 2; SCA2, n = 2; SCA3, n = 2; SCA6, n = 4; and SCA7, n = 3) completed a comprehensive battery of cognitive and mood assessments at two time points, a mean of 7.35 years apart. All patients were evaluated clinically using the Scale for the Rating and Assessment of Ataxia (SARA) and the Inventory of Non-Ataxia Signs (INAS). Patients underwent structural MRI imaging at follow-up.ResultsClinical scale scores increased in all patients over time, most prominently in the SCA1 (SARA) and SCA3 (INAS) groups. New impairments on neuropsychological tests were most commonly observed with executive functions, speed, attention, visual memory and Theory of Mind. Results suggest possible differences in cognitive decline in SCA subtypes, with the most rapid cognitive decline observed in the SCA1 patients, and the least in the SCA6 patients, congruent with observed patterns of motor deterioration. Minimal changes in mood were observed, and MRI measures of atrophy did not correlate with cognitive decline.ConclusionAs well as increasing physical impairment, cognitive decline over time appears to be a distinct aspect of the SCA phenotype, in keeping with the cerebellar cognitive-affective syndrome. Our data suggest a trend of cognitive decline that is different for each SCA subtype, and for the majority is related to the severity of cerebellar motor impairment.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0447-6) contains supplementary material, which is available to authorized users.

Volumetric Differences in Cerebellar Lobes in Individuals from Multiplex Alcohol Dependence Families and Controls: Their Relationship to Externalizing and Internalizing Disorders and Working Memory.

Offspring from families with multiple cases of alcohol dependence have a greater likelihood of developing alcohol dependence and related substance use disorders. Greater susceptibility for these disorders may be related to cerebellar morphology. Because posterior regions of the cerebellum are associated with cognitive abilities, we investigated whether high-risk offspring would display regionally specific differences in cerebellar morphology and whether these would be related to working memory performance. The relationship to externalizing and internalizing psychopathology was of interest because cerebellar morphology has previously been associated with a cognitive affective syndrome. A total of 131 participants underwent magnetic resonance imaging (MRI) with volumes of the cerebellar lobes obtained with manual tracing. These individuals were from high-risk (HR) for alcohol dependence families (N = 72) or from low-risk (LR) control families (N = 59). All were enrolled in a longitudinal follow-up that included repeated clinical assessments during childhood and young-adulthood prior to the scan that provided information on Axis I psychopathology. The Working Memory Index of the Wechsler Memory Scale was given at the time of the scan. Larger volumes of the corpus medullare and inferior posterior lobes and poorer working memory performance were found for the HR offspring relative to LR controls. Across all subjects, a significant positive association between working memory and total volume of corpus of the cerebellum was seen, controlling for familial risk. Presence of an internalizing or externalizing disorder interacting with familial risk was also associated with volume of the corpus medullare.

EPA-1136 – Cerebellar cognitive – affective syndrome ccas in children after posterior fossa tumor surgery

Introduction Cerebellum was typically associated with human motor functions. However, the past two decades of research have brought an increased number of reports indicating a markedly more extensive function of the cerebellum that also includes cognitive processes. In 1997 Schmahmann and Sherman described the complex neuropsychological problems manifested by the patients with cerebellar damages, which they termed as cerebellar cognitive-affective syndrome’ (CCAS). It consists of: executive dysfunctions, visual-spatial problems, mood disturbances and language impairments. This syndrome was observed mainly in adult patients. Aim The aim of the study was to describe the specificity of cerebellar cognitive affective syndrome in children with cerebellar damage. Material and method We examined 25 children after posterior fossa tumor surgery, mainly astrocytomas, treated at the Division of Pediatric Neurosurgery University Hospital in Cracow, Poland. The children were assessed by neuropsychological age-appropriate tests: Wisconsin Card Sorting Test, Word fluency, Rey-Osterrieth Complex Figure Test, Rey Auditory Verbal Learning Test, Digit Span WISC-R, Raven's Progressive Matrices Test, Benton Visual Retention Test. Results The results of our research reveal the cognitive and emotional problems of children with cerebellar damages. We observed the executive dysfunctions, language and memory impairments, visual-spatial problems and emotional difficulties. The type of the cognitive impairments was significantly connected with the location of the cerebellar lesion. Conclusions Cerebellum plays an important role in the cognitive and emotional development of the children.

Posterior Fossa Syndrome in an Adult Patient Following Surgical Evacuation of an Intracerebellar Haematoma

The posterior fossa syndrome (PFS) consists of transient cerebellar mutism, cognitive symptoms and neurobehavioural abnormalities that typically develop in children following posterior fossa tumour resection. Although PFS has been documented in more than 350 paediatric cases, reports of adult patients with a vascular aetiology are extremely rare. In addition, the pathophysiological substrate of the syndrome remains unclear. We report an adult patient with PFS after surgical evacuation of a cerebellar bleeding. After 45days of (akinetic) mutism, the patient's cognitive and behavioural profile closely resembled the "cerebellar cognitive-affective syndrome". A quantified SPECT study showed perfusional deficits in the anatomoclinically suspected supratentorial areas, subserving language dynamics, executive functioning, spatial cognition and affective regulation. We hypothesize that cerebello-cerebral diaschisis might be an important pathophysiological mechanism underlying akinetic mutism, cognitive deficits and behavioural-affective changes in adult patients with PFS.