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Cognitive dysmetria

Hesham M Hamoda, A T Makhlouf, J Fitzsimmons, Y Rathi, N Makris, R I Mesholam-Gately, J D Wojcik, J Goldstein, R W McCarley, L J Seidman, M Kubicki, M E Shenton
The "cognitive dysmetria" hypothesis suggests that impairments in cognition and behavior in patients with schizophrenia can be explained by disruptions in the cortico-cerebellar-thalamic-cortical circuit. In this study we examine thalamo-cortical connections in patients with first-episode schizophrenia (FESZ). White matter pathways are investigated that connect the thalamus with three frontal cortex regions including the anterior cingulate cortex (ACC), ventrolateral prefrontal cortex (VLPFC), and lateral oribitofrontal cortex (LOFC)...
April 17, 2018: Brain Imaging and Behavior
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
Amandine Moroso, Aurélie Ruet, Delphine Lamargue-Hamel, Fanny Munsch, Mathilde Deloire, Jean-Christophe Ouallet, Stéphanie Cubizolle, Julie Charré-Morin, Aurore Saubusse, Thomas Tourdias, Vincent Dousset, Bruno Brochet
BACKGROUND: Cerebellar and cognitive dysfunction can occur early in clinically isolated syndrome (CIS). Eye tracking is a reliable tool for the evaluation of both subtle cerebellar symptoms and cognitive impairment. OBJECTIVES: To investigate the early cognitive profile using neuropsychological and ocular motor (OM) testing in CIS with and without cerebellar dysfunction with OM testing compared to healthy subjects (HS). METHODS: Twenty-eight patients and 12 HC underwent OM and neuropsychological testing...
February 15, 2018: Journal of the Neurological Sciences
Heidi I L Jacobs, David A Hopkins, Helen C Mayrhofer, Emiliano Bruner, Fred W van Leeuwen, Wijnand Raaijmakers, Jeremy D Schmahmann
The cerebellum has long been regarded as essential only for the coordination of voluntary motor activity and motor learning. Anatomical, clinical and neuroimaging studies have led to a paradigm shift in the understanding of the cerebellar role in nervous system function, demonstrating that the cerebellum appears integral also to the modulation of cognition and emotion. The search to understand the cerebellar contribution to cognitive processing has increased interest in exploring the role of the cerebellum in neurodegenerative and neuropsychiatric disorders...
January 1, 2018: Brain: a Journal of Neurology
Xavier Guell, John D E Gabrieli, Jeremy D Schmahmann
In this report, we analyze the relationship between embodied cognition and current theories of the cerebellum, particularly the Dysmetria of Thought theory and the concept of the Universal Cerebellar Transform (UCT). First, we describe the UCT and the Dysmetria of Thought theories, highlight evidence supporting these hypotheses and discuss their mechanisms, functions and relevance. We then propose the following relationships. (i) The UCT strengthens embodied cognition because it provides an example of embodiment where the nature and intensity of the dependence between cognitive, affective and sensorimotor processes are defined...
March 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Mikhail Zvyagintsev, Carmen Parisi, Klaus Mathiak
INTRODUCTION: Schizophrenia has been characterised by neurodevelopmental dysconnectivity resulting in cognitive and perceptual dysmetria. Hence patients with schizophrenia may be impaired to detect the temporal relationship between stimuli in different sensory modalities. However, only a few studies described deficit in perception of temporally asynchronous multisensory stimuli in schizophrenia. METHODS: We examined the perceptual bias and the processing time of synchronous and delayed sounds in the streaming-bouncing illusion in 16 patients with schizophrenia and a matched control group of 18 participants...
June 3, 2017: Cognitive Neuropsychiatry
Yousuke T Horikawa, Tina Y Udaka, Janet K Crow, John I Takayama, Martin T Stein
Toshi, a 14-year-old Japanese boy, had uncontrolled asthma after relocating from Japan with his family 1 year ago. In Japan, he was diagnosed with moderate, persistent asthma, which was controlled with salmeterol and albuterol on an as needed basis. Since moving to the United States, Toshi complained of frequent dyspnea.Initially, he was seen by a Japanese physician who prescribed 200 mg of fluticasone 3 times a day and albuterol nebulization as needed. When Toshi came to the Pediatric Primary Care Clinic, he reported using his nebulizer up to 25 times daily...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
Fazıl Mustafa Gelal, Tuğçe Özlem Kalaycı, Mehmet Çelebisoy, Levent Karakaş, Hülya Erdoğan Akkurt, Feray Koç
Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal...
April 2016: Annals of Indian Academy of Neurology
Jan Lošák, Jitka Hüttlová, Petra Lipová, Radek Marecek, Martin Bareš, Pavel Filip, Jozef Žubor, Libor Ustohal, Jirí Vanícek, Tomáš Kašpárek
Abnormalities in both time processing and dopamine (DA) neurotransmission have been observed in schizophrenia. Time processing seems to be linked to DA neurotransmission. The cognitive dysmetria hypothesis postulates that psychosis might be a manifestation of the loss of coordination of mental processes due to impaired timing. The objective of the present study was to analyze timing abilities and their corresponding functional neuroanatomy in schizophrenia. We performed a functional magnetic resonance imaging (fMRI) study using a predictive motor timing paradigm in 28 schizophrenia patients and 27 matched healthy controls (HC)...
November 2016: Schizophrenia Bulletin
Nadja Lindberg Bonne, Lars Evald, Jonas Kjeldbjerg Hansen
BACKGROUND: The cerebellar cognitive affective syndrome (CCAS), is characterised by disturbances in executive functions, visuospatial difficulties, personality changes, and linguistic difficulties. It is well described in other diseases of the cerebellum such as tumour resection and cerebellar stroke but has not previously been described in detail in paediatric cases of acute post-infectious ataxia (APCA). METHODS: Case study. A 12-year-old boy was admitted with severe ataxia, dysmetria, dysdiadokinesia, and dysarthria...
May 2016: European Journal of Paediatric Neurology: EJPN
Elizabeth E O'Hearn, Hyon S Hwang, Susan E Holmes, Dobrila D Rudnicki, Daniel W Chung, Ana I Seixas, Rachael L Cohen, Christopher A Ross, John Q Trojanowski, Olga Pletnikova, Juan C Troncoso, Russell L Margolis
OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration...
November 2015: Movement Disorders: Official Journal of the Movement Disorder Society
Florian Bodranghien, Amy Bastian, Carlo Casali, Mark Hallett, Elan D Louis, Mario Manto, Peter Mariën, Dennis A Nowak, Jeremy D Schmahmann, Mariano Serrao, Katharina Marie Steiner, Michael Strupp, Caroline Tilikete, Dagmar Timmann, Kim van Dun
The cerebellum is involved in sensorimotor operations, cognitive tasks and affective processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent advances in our understanding of cerebellar operations. The key symptoms and signs of cerebellar dysfunction, often grouped under the generic term of ataxia, are discussed. Vertigo, dizziness, and imbalance are associated with lesions of the vestibulo-cerebellar, vestibulo-spinal, or cerebellar ocular motor systems. The cerebellum plays a major role in the online to long-term control of eye movements (control of calibration, reduction of eye instability, maintenance of ocular alignment)...
June 2016: Cerebellum
Simona Fecarotta, Alfonso Romano, Roberto Della Casa, Ennio Del Giudice, Diana Bruschini, Giuseppina Mansi, Bruno Bembi, Andrea Dardis, Agata Fiumara, Maja Di Rocco, Graziella Uziel, Anna Ardissone, Dario Roccatello, Mirella Alpa, Enrico Bertini, Adele D'Amico, Carlo Dionisi-Vici, Federica Deodato, Stefania Caviglia, Antonio Federico, Silvia Palmeri, Orazio Gabrielli, Lucia Santoro, Alessandro Filla, Cinzia Russo, Giancarlo Parenti, Generoso Andria
BACKGROUND: Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. METHODS: Based on the age at onset of neurological manifestations patients' phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infantile (n = 6), early infantile (n = 2). Two patients had an exclusively visceral phenotype. We clinically evaluated patients' neurological involvement, giving a score of severity ranging from 0 (best) to 3 (worst) for gait abnormalities, dystonia, dysmetria, dysarthria, and developmental delay/cognitive impairment, and from 0 to 4 for dysphagia...
2015: Orphanet Journal of Rare Diseases
Ann K Shinn, Justin T Baker, Kathryn E Lewandowski, Dost Öngür, Bruce M Cohen
Schizophrenia is a devastating illness characterized by disturbances in multiple domains. The cerebellum is involved in both motor and non-motor functions, and the "cognitive dysmetria" and "dysmetria of thought" models propose that abnormalities of the cerebellum may contribute to schizophrenia signs and symptoms. The cerebellum and cerebral cortex are reciprocally connected via a modular, closed-loop network architecture, but few schizophrenia neuroimaging studies have taken into account the topographical and functional heterogeneity of the cerebellum...
2015: Frontiers in Human Neuroscience
Gerd Wagner, Feliberto De la Cruz, Claudia Schachtzabel, Daniel Güllmar, C Christoph Schultz, Ralf G Schlösser, Karl-Jürgen Bär, Kathrin Koch
Evidence suggests that cognitive deficits are a core feature of schizophrenia. The concept of "cognitive dysmetria" has been introduced to characterize disintegration of fronto-thalamic-cerebellar circuitry which constitutes a key network for a variety of neuropsychological symptoms in schizophrenia. The present multimodal study aimed at investigating effective and structural connectivity of the fronto-thalamic circuitry in schizophrenia. fMRI effective connectivity analysis using dynamic causal modeling (DCM) and diffusion tensor imaging (DTI) were combined to examine cognitive control processes in 38 patients with schizophrenia and 40 matched healthy controls...
May 2015: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Alberto Benussi, Antonella Alberici, Enrico Premi, Valeria Bertasi, Maria Sofia Cotelli, Marinella Turla, Andrea Dardis, Stefania Zampieri, Eleonora Marchina, Barbara Paghera, Francesca Gallivanone, Isabella Castiglioni, Alessandro Padovani, Barbara Borroni
We report the case of Niemann-Pick disease type C with extensive phenotypic heterogeneity in two monozygotic twins. One of the twins presented with a history of obsessive-compulsive disorder and slowly progressive inferior limb clumsiness, dysphagia and dysarthria. Neurological examination revealed a broad-based ataxic gait, limb dysmetria, downward vertical gaze palsy, brisk lower limb reflexes and ankle clonus, while neuropsychological assessment revealed global cognitive deficits in multiple domains. Complete neurological and neuropsychological evaluation in the asymptomatic monozygotic twin brother only revealed mild neurological impairment...
March 2015: Journal of Neurology
Jessica A Bernard, Vijay A Mittal
Motor abnormalities in individuals with schizophrenia and those at-risk for psychosis are well documented. An accumulating body of work has also highlighted motor abnormalities related to cerebellar dysfunction in schizophrenia including eye-blink conditioning, timing, postural control, and motor learning. We have also recently found evidence for motor dysfunction in individuals at ultra high-risk for psychosis (1-3). This is particularly relevant as the cerebellum is thought to be central to the cognitive dysmetria model of schizophrenia, and these overt motor signs may point to more general cerebellar dysfunction in the etiology of psychotic disorders...
2014: Frontiers in Psychiatry
Xavier Guell, Franziska Hoche, Jeremy D Schmahmann
The cerebellar cognitive affective syndrome (CCAS) includes disruption of linguistic processing such as verbal fluency, verbal working memory, grammar, and speech perception. We set out to examine linguistic capabilities in patients with cerebellar lesions to determine which domains are spared and which impaired and to evaluate the underlying cognitive structure of these deficits. Forty-four patients with cerebellar disease were compared to 40 healthy controls on the Oral Sentence Production Test (OSPT) which assesses production of sentences with correct syntactic structure and semantic quality...
February 2015: Cerebellum
Lubin Wang, Feng Zou, Yongcong Shao, Enmao Ye, Xiao Jin, Shuwen Tan, Dewen Hu, Zheng Yang
The default mode network (DMN) plays an important role in the physiopathology of schizophrenia. Previous studies have suggested that the cerebellum participates in higher-order cognitive networks such as the DMN. However, the specific contribution of the cerebellum to the DMN abnormalities in schizophrenia has yet to be established. In this study, we investigated cerebellar functional connectivity differences between 60 patients with schizophrenia and 60 healthy controls from a public resting-state fMRI database...
December 2014: Schizophrenia Research
Kuljeet Singh Anand, Ankur Wadhwa, Jyoti Garg
Cerebellar complications of HIV infection primarily manifested in ataxia, usually arise as the result of cerebellar lesions due to opportunistic infections, vasculitis or neoplastic processes. A 28 year old female known to have HIV infection for last four years, presented to our hospital with progressive unsteadiness in walking, slurring of speech and intention tremors for the last two months. There was no family history of similar complaints, and she was on Anti retroviral treatment for last one and a half years...
September 2014: Journal of the International Association of Providers of AIDS Care
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