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Cerebellar dysfunction

Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opal
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional regulation. Although symptoms appear relatively late in life, primarily from cerebellar dysfunction, pathogenesis begins early, with brain-wide transcriptional changes detectable as early as a week after birth in SCA1 knock-in mice. Given the importance of this postnatal period for cerebellar development, we asked whether this region might be developmentally altered by mutant ATXN1...
March 13, 2018: Journal of Clinical Investigation
María Díez-Cirarda, Antonio P Strafella, Jinhee Kim, Javier Peña, Natalia Ojeda, Alberto Cabrera-Zubizarreta, Naroa Ibarretxe-Bilbao
The objective was to assess dynamic functional connectivity (FC) and local/global connectivity in Parkinson's disease (PD) patients with mild cognitive impairment (PD-MCI) and with normal cognition (PD-NC). The sample included 35 PD patients and 26 healthy controls (HC). Cognitive assessment followed an extensive neuropsychological battery. For resting-state functional MRI (rs-fMRI) analysis, independent component analysis (ICA) was performed and components were located in 7 networks: Subcortical (SC), Auditory (AUD), Somatomotor (SM), visual (VI), cognitive-control (CC), default-mode (DMN), and cerebellar (CB)...
2018: NeuroImage: Clinical
Hua Zhou, Yan Tang, Zhi Yuan
White matter (WM) asymmetries of the human brain have been well documented using diffusion tensor imaging (DTI). The purpose of this study was to investigate white matter asymmetry across the whole brain in cerebral small vessel disease (SVD) patients and evaluate the relation between the factors which often represent disease's existence and white matter asymmetry. A total of 105 nondemented elderly with cerebral SVD patients aged between 60 and 85 years were included in this study. All participants underwent T1 MPRAGE, fluid-attenuated inversion recovery and DTI scanning...
2018: Journal of Integrative Neuroscience
Caspar Godthaab Sørensen, William Kristian Karlsson, Faisal Mohammad Amin, Mette Lindelof
Introduction: Encephalopathy and convulsive seizures are rare manifestations of metronidazole toxicity. The incidence is unknown, but the condition has most frequently been reported in patients in their fifth to sixth decades. Usually, this condition is regarded as reversible, but permanent deficits and even death have been reported. Case Report: A 66-year-old female patient undergoing metronidazole treatment for pleural empyema was admitted to our institution after her second episode of seizure...
January 2018: Case Reports in Neurology
Jing Wang, Kang Xiao, Wei Zhou, Chen Gao, Cao Chen, Qi Shi, Xiao-Ping Dong
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrPSc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs...
March 6, 2018: Prion
Nitish Kamble, Pramod Kumar Pal
Among the involuntary movement disorders, tremor is a common phenomenology seen in clinical practice. The important factors that need to be determined while assessing a patient with tremor include the phenomenology of tremor, presence or absence of other neurologic signs, and the effect of medications or alcohol. Tremor can broadly be classified based on the circumstances under which it occurs, i.e., rest or action. The basal ganglia-cerebello-thalamic and dentate-olivary circuits are involved in the generation of tremor...
March 2018: Neurology India
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological disorders have been described in patients with autoimmunity associated with GAD antibodies. Among these disorders, nystagmus and oculomotor dysfunction are increasingly recognized, although they have been rarely reported isolated or as the main manifestation of anti-GAD autoimmunity. Moreover, therapeutic approaches for such patients are unclear. Here we present a 44-year-old man with disabling oscillopsia secondary to downbeat nystagmus, abnormal saccades, ocular pursuit and optokinetic nystagmus, as well as mild gait ataxia and cerebellar atrophy associated with high serum GAD antibodies with intrathecal secretion of such antibodies...
April 15, 2018: Journal of Neuroimmunology
Stephanie Zur Nedden, Rafaela Eith, Christoph Schwarzer, Lucia Zanetti, Hartwig Seitter, Friedrich Fresser, Alexandra Koschak, Angus Jm Cameron, Peter J Parker, Gottfried Baier, Gabriele Baier-Bitterlich
Increasing evidence suggests that synapse dysfunctions are a major determinant of several neurodevelopmental and neurodegenerative diseases. Here we identify protein kinase N1 (PKN1) as a novel key player in fine-tuning the balance between axonal outgrowth and presynaptic differentiation in the parallel fiber (PF)-forming cerebellar granule cells (Cgc). Postnatal Pkn1-/- animals showed a defective PF-Purkinje cell (PC) synapse formation. In vitro, Pkn1-/- Cgc exhibited deregulated axonal outgrowth, elevated AKT phosphorylation and higher levels of neuronal differentiation-2 (NeuroD2), a transcription factor preventing presynaptic maturation...
March 1, 2018: Journal of Clinical Investigation
Hiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Uri Kramer, Naomichi Matsumoto, Aviva Fattal-Valevski
SNAP25 is a core component of the soluble N-ethylmaleimide-sensitive factor attachment receptor complex, which plays a critical role in synaptic vesicle exocytosis. To date, six de novo SNAP25 mutations have been reported in patients with neurological features including seizures, intellectual disability, severe speech delay, and cerebellar ataxia. Here, we analyzed an Israeli family with two affected siblings showing seizures and cerebellar dysfunction by whole-exome sequencing, and identified a novel missense SNAP25 mutation (c...
February 28, 2018: Journal of Human Genetics
Tsuneo Nakajima, Toshihiro Sakai, Hitoshi Hara
We report a forty-six-year-old man with a past history of brain abscess managed by surgical drainage and recurrent ischemic strokes. After treatment of brain abscess, he had been on medication for symptomatic epilepsy, but had ceased medication by his judgment. He was taken to a hospital in an ambulance for an epileptic seizure. In the hospital he suffered from drug-induced renal dysfunction caused by the intravenous anti-epileptic drug, and right hemiparesis due to ischemic stroke occurred on the third hospitalization day...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
E Cirillo, E Del Giudice, R Micheli, A M Cappellari, A Soresina, R M Dellepiane, M C Pietrogrande, L Dell'Era, F Specchia, A Pession, A Plebani, C Pignata
BACKGROUND AND PURPOSE: Ataxia-Telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T Mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life (QoL). Successful treatment options are still not available. Aim of this multicenter study, performed with a blind evaluation procedure, was to define the minimal effective dosage of oral betamethasone, thus preventing the occurrence of side effects...
February 28, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Jorge Rey-Martinez, Angel Batuecas-Caletrio, Eusebi Matiño, Gabriel Trinidad-Ruiz, Xabier Altuna, Nicolas Perez-Fernandez
Background: Visually enhanced vestibulo-ocular reflex (VVOR) is a well-known bedside clinical test to evaluate visuo-vestibular interaction, with clinical applications in patients with neurological and vestibular dysfunctions. Owing to recently developed diagnostic technologies, the possibility to perform an easy and objective measurement of the VVOR has increased, but there is a lack of computational methods designed to obtain an objective VVOR measurement. Objectives: To develop a method for the assessment of the VVOR to obtain a gain value that compares head and eye velocities and to test this method in patients and healthy subjects...
2018: Frontiers in Neurology
J M C van Leeuwen, M Vink, G Fernández, E J Hermans, M Joëls, R S Kahn, C H Vinkers
Stress is a major risk factor for almost all psychiatric disorders, however, the underlying neurobiological mechanisms remain largely elusive. In healthy individuals, a successful stress response involves an adequate neuronal adaptation to a changing environment. This adaptive response may be dysfunctional in vulnerable individuals, potentially contributing to the development of psychopathology. In the current study, we investigated brain responses to emotional stimuli following stress in healthy controls and at-risk individuals...
February 26, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
Katrin Parmar, Christine Stadelmann, Maria A Rocca, Dawn Langdon, Egidio D'Angelo, Marcus D'Souza, Jessica Burggraaff, Christiane Wegner, Jaume Sastre-Garriga, Alonso Barrantes-Freer, Jonas Dorn, Bernard M J Uitdehaag, Xavier Montalban, Jens Wuerfel, Christian Enzinger, Alex Rovira, Mar Tintore, Massimo Filippi, Ludwig Kappos, Till Sprenger
Despite its functional importance and well known clinical impact in Multiple Sclerosis (MS), the cerebellum has only received significant attention over the past few years. It is now established that the cerebellum plays a key role not only in various sensory-motor networks, but also in cognitive-behavioural processes, domains primarily affected in patients with MS. Evidence from histopathological and magnetic resonance imaging (MRI) studies on cerebellar involvement in MS is increasingly available, however linking these pathological findings with clinical dysfunction remains challenging...
February 22, 2018: Neuroscience and Biobehavioral Reviews
Jeffrey M Rogers, Greg Savage, Marcus A Stoodley
Displacement of the cerebellar tonsils in Chiari type I malformation (CMI) can affect functions controlled by the cerebellum and brainstem. While playing an integral role in the control of movement, the cerebellum also has widespread cortical connections, influencing a range of cognitive process. A systematic literature review was conducted to examine the relationship between cognition and CMI, assessing evidence for general or domain-specific cognitive change. The search protocol examined the AMED, CINAHL, Cochrane Library, EMBASE, MEDLINE, PsycINFO, and Scopus databases...
February 21, 2018: Neuropsychology Review
Michela Lupo, Giusy Olivito, Libera Siciliano, Marcella Masciullo, Marco Bozzali, Marco Molinari, Maria Leggio
Cerebellar dysfunction plays a critical role in neurodevelopmental disorders with long-term behavioral and neuropsychiatric symptoms. A 43-year-old woman with a cerebellum arteriovenous malformation and history of behavioral dysregulation since childhood is described. After the rupture of the cerebellar malformation in adulthood, her behavior morphed into specific psychiatric symptoms and cognitive deficits occurred. The neuropsychological assessment evidenced impaired performance in attention, visuospatial, memory, and language domains...
February 19, 2018: Cerebellum
Doniparthi Venkata Seshagiri, Arun Sasidharan, Gulshan Kumar, Pramod Kumar Pal, Sanjeev Jain, Bindu M Kutty, Ravi Yadav
OBJECTIVES: Spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. Oculomotor abnormality is one of the most frequent manifestations. This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring. METHODS: The study was carried out using 36 genetically positive SCA patients...
February 2018: Sleep Medicine
Maria Sundberg, Ivan Tochitsky, David E Buchholz, Kellen Winden, Ville Kujala, Kush Kapur, Deniz Cataltepe, Daria Turner, Min-Joon Han, Clifford J Woolf, Mary E Hatten, Mustafa Sahin
Accumulating evidence suggests that cerebellar dysfunction early in life is associated with autism spectrum disorder (ASD), but the molecular mechanisms underlying the cerebellar deficits at the cellular level are unclear. Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that often presents with ASD. Here, we developed a cerebellar Purkinje cell (PC) model of TSC with patient-derived human induced pluripotent stem cells (hiPSCs) to characterize the molecular mechanisms underlying cerebellar abnormalities in ASD and TSC...
February 15, 2018: Molecular Psychiatry
Amy Louise Ross Russell, Martin Prevett, Paul Cook, Charles Simon Barker, Ashwin Arnold Pinto
Magnesium is the second most abundant intracellular cation. Deficiency can cause several neurological complications, including cerebellar syndromes, with various MRI findings. These include cerebellar oedema, presumably through a similar mechanism to that in posterior reversible encephalopathy syndrome (PRES). People particularly vulnerable to deficiency include those with high alcohol consumption, excessive loss due to gastrointestinal pathology and those taking certain medications, including proton pump inhibitors...
February 15, 2018: Practical Neurology
Farzaneh Ghazi Sherbaf, Farzaneh Rahmani, Sommayeh Mohammadi Jooyandeh, Mohammad Hadi Aarabi
Search for Parkinson's disease (PD) progression biomarkers has led to the identification of both motor and non-motor symptoms relevant of prodromal PD that could be eye-opening to the spreading underlying Lewy body pathogenesis. One most robust predictor of PD is the REM sleep behavior disorder (RBD), and one most common early non-motor symptom of PD is depression. With RBD, frequently coexisting with clinical depression and both predicting dopamine transmission dysfunction, we aimed to survey structural associates of depressive symptoms in early PD patients with comorbid RBD...
February 13, 2018: Acta Neurologica Belgica
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