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Avi Gadoth, Thomas J Kryzer, Jim Fryer, Andrew McKeon, Vanda A Lennon, Sean J Pittock
To report the identification of microtubule associated protein (MAP)1B as the antigen of the previously described PCA-2 antibody, its frequency and clinical, oncological and serological associations. Methods Archival serum or cerebrospinal fluid (CSF) specimens were available from 96 of 118 consecutive PCA-2-IgG-seropositive patients identified 1993-2016. The autoantigen, defined in mouse brain lysate by western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies...
January 11, 2017: Annals of Neurology
Canan Togay Işıkay, Busra S Polat
This case with unilateral complete blepharoptosis and slight limitation of upgaze as ocular findings due to midbrain infarction represents an unusual form of intra-axial oculomotor nerve involvement. A 65-year-old man was admitted with acute unilateral ptosis of the left eyelid and gait ataxia. He had chronic hypertension in the medical history. The neurologic examination revealed that he had a complete ptosis of the left eyelid, slight limitation of elevation in the left eye, bilateral dysmetria, and gait ataxia...
April 2016: Neuro-ophthalmology
Amandine Moroso, Aurélie Ruet, Mathilde Deloire, Delphine Lamargue-Hamel, Stéphanie Cubizolle, Julie Charré-Morin, Aurore Saubusse, Bruno Brochet
Cerebellar impairment is frequent and predictive of disability in multiple sclerosis (MS). The Nine-Hole Peg Test (NHPT) is commonly used to assess cerebellar symptoms despite its lack of specificity for cerebellar ataxia. Eye-tracking is a reliable test for identifying subtle cerebellar symptoms and could be used in clinical trials, including those involving early MS patients. To evaluate, by the use of eye-tracking, the accuracy of the NHPT in detecting subtle cerebellar symptoms in patients with clinically isolated syndrome with a high risk of conversion to MS (HR-CIS)...
November 4, 2016: Cerebellum
W Reith, S Roumia, P Dietrich
CLINICAL/METHODICAL ISSUE: Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. STANDARD RADIOLOGICAL METHODS: In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia...
October 25, 2016: Der Radiologe
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
Beth P Johnson, Jarrad A G Lum, Nicole J Rinehart, Joanne Fielding
There has been considerable focus placed on how individuals with autism spectrum disorder (ASD) visually perceive and attend to social information, such as facial expressions or social gaze. The role of eye movements is inextricable from visual perception, however this aspect is often overlooked. We performed a series of meta-analyses based on data from 28 studies of eye movements in ASD to determine whether there is evidence for ocular motor dysfunction in ASD. Tasks assessed included visually-guided saccade tasks, gap/overlap, anti-saccade, pursuit tasks and ocular fixation...
October 2016: Neuroscience and Biobehavioral Reviews
David J Herzfeld, Reza Shadmehr
No abstract text is available yet for this article.
October 2016: European Journal of Neuroscience
Mary C Spiciarich, Solomon L Moshé
BACKGROUND: Paraneoplastic cerebellar degeneration is a rare neurological condition characterized by diffuse cerebellar dysfunction and magnetic resonance imaging evidence of progressive cerebellar atrophy. It has been associated with several autoantibodies and malignancies in adults. To date, only six cases have been described in male children. PATIENT DESCRIPTION: We describe an eight-year-old girl with a prodrome of abdominal pain and vomiting followed by acute onset diplopia, dysarthria, dysmetria, and ataxia...
September 2016: Pediatric Neurology
Luca T Giurgea, Tim Lahey
Haemophilus parainfluenzae, which uncommonly causes endocarditis, has never been documented to cause mural involvement. A 62-year-old immunocompetent female without predisposing risk factors for endocarditis except for poor dentition presented with fever, emesis, and dysmetria. Echocardiography found a mass attached to the left ventricular wall with finger-like projections. Computed tomography showed evidence of embolic phenomena to the brain, kidneys, spleen, and colon. Cardiac MRI revealed involvement of the chordae tendineae of the anterior papillary muscles...
2016: Case Reports in Infectious Diseases
Tommy L H Chan, Ana M Cartagena, Anne Marie Bombassaro, Seyed M Hosseini-Moghaddam
Ramsay Hunt syndrome associated with varicella zoster virus reactivation affecting the central nervous system is rare. We describe a 55-year-old diabetic female who presented with gait ataxia, right peripheral facial palsy, and painful vesicular lesions involving her right ear. Later, she developed dysmetria, fluctuating diplopia, and dysarthria. Varicella zoster virus was detected in the cerebrospinal fluid by polymerase chain reaction. She was diagnosed with Ramsay Hunt syndrome associated with spread to the central nervous system...
2016: Canadian Journal of Infectious Diseases & Medical Microbiology
Cyril Gitiaux, Nicole Chemaly, Susana Quijano-Roy, Christine Barnerias, Isabelle Desguerre, Marie Hully, Catherine Chiron, Olivier Dulac, Rima Nabbout
OBJECTIVE: Since SCN1A is expressed in the motor neuron initial segment, we explored whether motor neuron dysfunction could contribute to gait disturbance and orthopedic misalignment in patients with Dravet syndrome due to SCN1A mutations. METHODS: We assessed 12 consecutive patients who presented to our institution between January and March 2013. All of them were older than 2 years and were positive for the SCN1A mutation. We performed nerve conduction velocity studies and needle EMG recordings...
July 19, 2016: Neurology
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
Andrew E Becker, Wendy Vargas, Toni S Pearson
BACKGROUND: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. CASE REPORT: An 11-year-old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14-year-old older brother had dystonic head tremor and generalized dystonia. One year later, the brother developed dysarthria, limb dysmetria, and gait ataxia...
2016: Tremor and Other Hyperkinetic Movements
Zongpeng Sun, Marc Junker, Peter W Dicke, Peter Thier
Recent studies have suggested that microsaccades, the small amplitude saccades made during fixation, are precisely controlled. Two lines of evidence suggest that the cerebellum plays a key role not only in improving the accuracy of macrosaccades but also of microsaccades. First, lesions of the fastigial oculomotor regions (FOR) cause horizontal dysmetria of both micro- and macrosaccades. Secondly, our previous work on Purkinje cell simple spikes in the oculomotor vermis (OV) has established qualitatively similar response preferences for these two groups of saccades...
June 3, 2016: European Journal of Neuroscience
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)...
November 2016: Schizophrenia Bulletin
Aasef G Shaikh, Aaron L Wong, Lance M Optican, David S Zee
An attractive hypothesis about how the brain learns to keep its motor commands accurate is centered on the idea that the cerebellar cortex associates error signals carried by climbing fibers with simultaneous activity in parallel fibers. Motor learning can be impaired if the error signals are not transmitted, are incorrect, or are misinterpreted by the cerebellar cortex. Learning might also be impaired if the brain is overwhelmed with a sustained barrage of meaningless information unrelated to simultaneously appearing error signals about incorrect performance...
May 10, 2016: Cerebellum
Mohammad Reza Najafi, Nafiseh Toghianifar, Morteza Abdar Esfahani, Mohammad Amin Najafi, Mohammad Javad Mollakouchakian
BACKGROUND: Vertebrobasilar dolichoectasia (VBD) is a rare vasculopathy. The etiology of this disease is unknown. Transient ischemic attacks (TIAs) of vertebrobasilar system refer to a transient (< 24 hours) lowering of blood flow in the posterior circulation of the brain. We present a case of dolichoectasia in the vertebrobasilar artery that presented with TIAs. CASE REPORT: A hypertensive 54-year-old man with true vertigo, nausea, imbalance, dysarthria, dysmetria, horizontal nystagmus, and gait ataxia was referred to Alzahra Hospital, Isfahan, Iran...
January 2016: ARYA Atherosclerosis
Genjiro Hirose
Over the last decade, substantial information on cerebellar oculomotor control has been provided by the use of sophisticated neuroanatomical, neurophysiological, and imaging techniques. We now know that an intact cerebellum is a prerequisite for normal oculomotor performance. This review clarifies the current knowledge on structure-function correlations of the cerebellum in relation to ocular movements and allows them to be applied to topographical diagnosis of cerebellar lesions. The cerebellar regions most closely related to oculomotor function are: (1) the flocculus/paraflocculus for VOR suppression, cancellation, smooth pursuit eye movement and gaze-holding, (2) the nodulus/ventral uvula for velocity storage and low frequency prolonged vestibular response, and (3) the dorsal oculomotor vermis (declive VI, folium VII) and the posterior portion of the fastigial nucleus (fastigial oculomotor region) for saccades and smooth pursuit initiation...
March 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Aasef G Shaikh, George Wilmot
Paucity in gamma-amino butyric acid (GABA) due to blockage in the action of glutamic acid decarboxylase (GAD), as seen in the syndrome of anti-GAD antibody, causes adult onset cerebellar ataxia, muscle rigidity, and episodic spasms. Downbeat nystagmus, saccadic dysmetria, impaired ocular pursuit, and impaired cancelation of vestibular ocular reflex are typical ocular motor deficits in patients with syndrome of anti-GAD antibody. We describe opsoclonus, in addition to downbeat nystagmus, in a patient with increased titers of anti-GAD antibody...
March 15, 2016: Journal of the Neurological Sciences
Yun-Ju Choi, Kyung-Wook Kang, Sae-Young Lee, Seung-Ho Kang, Seung-Han Lee, Byeong C Kim
Sporadic Creutzfeldt-Jakob disease (CJD) is clinically characterized by rapidly progressive dementia combined with other cardinal symptoms, such as myoclonus, visual or cerebellar disturbances, extrapyramidal or pyramidal disturbance, and akinetic mutism. However, as an initial manifestation, focal neurologic deficits other than the aforementioned or nonspecific generalized symptoms may lead to a misdiagnosis or a delayed diagnosis. The authors report a case of 66-year-old male patient with sporadic CJD who had dizziness, gaze-evoked nystagmus (GEN), and other central eye signs (impaired smooth pursuit, saccadic dysmetria) as an initial manifestation without dementia...
February 2016: Medicine (Baltimore)
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