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Cognitive dysmetria

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 Mareček, Martin Bareš, Pavel Filip, Jozef Žůbor, Libor Ustohal, Jiří Vaníček, 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)...
May 17, 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
Mohammad Amin Edalatmanesh, Haniyeh Nikfarjam, Marzieh Moghadas, Aliakbar Haddad-Mashadrizeh, Reza Robati, Mohammad Reza Hashemzadeh
OBJECTIVE: The cerebellum is a key structure involved in coordinated motor planning, cognition, learning and memory functions. This study presents a permanent model of a toxin produced cerebellar lesion characterized according to contemporary motor and cognitive abnormalities. MATERIALS AND METHODS: In this experimental study, slow administration of quinolinic acid (QA, 5 µl of 200 µmol, 1 µl/minute) in the right cerebellar hemisphere (lobule VI) caused noticeable motor and cognitive disturbances along with cellular degeneration in all treated animals...
2014: Cell Journal
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 2014: Journal of Developmental and Behavioral Pediatrics: JDBP
Kartheek Ganta, Aisha Mohsin Malik, James B Wood, Michael C Levin
INTRODUCTION: Primary angiitis of the central nervous system is a rare disease of unclear etiology. There is no single test diagnostic of primary angiitis of the central nervous system. We report an unusual pattern on brain magnetic resonance imaging that might be specific for primary angiitis of the central nervous system. CASE PRESENTATION: A 47-year-old Caucasian man developed progressive bilateral hand tremor, difficulty walking, cognitive slowing and headache...
2014: Journal of Medical Case Reports
Jessica A Bernard, Derek J Dean, Jerillyn S Kent, Joseph M Orr, Andrea Pelletier-Baldelli, Jessica R Lunsford-Avery, Tina Gupta, Vijay A Mittal
Despite known deficits in postural control in patients with schizophrenia, this domain has not been investigated in youth at ultra high-risk (UHR) for psychosis. This is particularly relevant as postural control implicates dysfunction in the cerebellum-a region implicated in cognitive dysmetria conceptions of schizophrenia but poorly understood in the prodrome. Here, we extended our understanding of movement abnormalities in UHR individuals to include postural control, and have linked these deficits to both symptom severity and cerebello-cortical network connectivity...
August 2014: Human Brain Mapping
Zoya Georgieva, Matthew Parton
Glutamic acid decarboxylase autoantibody (GAD-65) catalyses glutamate conversion into γ-aminobutyric acid (GABA) in the central nervous system and in the pancreatic β cells. Antibodies targeting GAD-65 are of uncertain pathogenic significance and occur in stiff person syndrome, cerebellar ataxia, epilepsy, limbic encephalitis and combinations thereof and diabetes mellitus. A 45-year-old man with a cerebellar gait ataxia, dysmetria, nystagmus and mild cerebellar dysarthria was diagnosed with insulin-dependent diabetes mellitus a year after the onset of neurological symptoms...
2014: BMJ Case Reports
Vijay A Mittal, Derek J Dean, Jessica A Bernard, Joseph M Orr, Andrea Pelletier-Baldelli, Emily E Carol, Tina Gupta, Jessica Turner, Daniel R Leopold, Briana L Robustelli, Zachary B Millman
INTRODUCTION: There is an emerging consensus that neurological soft signs (NSS) may not be "soft" at all but rather may reflect neuropathy, particularly in the cerebellum and thalamus. However, our understanding of connective tract abnormalities is limited, and to date, there have been no investigations examining NSS and longitudinal white matter development during the prodrome. Mapping the correlates of NSS in ultrahigh-risk (UHR) youth offers potential for highlighting a viable biomarker as well as for advancing understanding of pathogenic processes during the adolescent risk period...
November 2014: Schizophrenia Bulletin
Kayako Matsuo, Shen-Hsing Annabel Chen, Chih-Min Liu, Chen-Chung Liu, Tzung-Jeng Hwang, Ming H Hsieh, Yi Ling Chien, Hai-Gwo Hwu, Wen-Yih Isaac Tseng
A dysfunction in working memory (WM) is a core cognitive impairment in schizophrenia that involves the cortical-subcortical-cerebellar network. We propose that in addition to other often-referred markers, the signal reduction in the network during verbal working memory (VWM) is a stable and intrinsic indicator of illness. We presented a Sternberg VWM task to 46 patients with schizophrenia and 46 healthy controls matched on performance accuracy during functional magnetic resonance imaging (fMRI). Reduced activation was demonstrated in the thalamus, cerebellar vermis, pons and the triangular part of the inferior frontal gyrus (IFG) in the patient group...
December 2013: Schizophrenia Research
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