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Cerebellar ataxia

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https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#1
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29771692/the-expanding-spectrum-of-paroxysmal-movement-disorders-update-from-clinical-features-to-therapeutics
#2
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan
PURPOSE OF REVIEW: This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions. RECENT FINDINGS: Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options...
May 15, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#3
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29764786/instability-in-patients-with-canvas-can-computerized-dynamic-posturography-help-in-diagnosis
#4
Alba Marina Milá de la Roca-Morales, Joan F Andreo-Marroig, Sofía Santos-Pérez, Andrés Soto-Varela
OBJECTIVE: To describe the pattern of dynamic posturography or its role in diagnosis in patients with cerebellar ataxia with neuropathy and vestibular arreflexia syndrome (CANVAS). MATERIALS AND METHODS: We present and describe posturographic data of four patients diagnosed with the CANVAS syndrome in a tertiary hospital. RESULTS: In all patients, the average balance score was diminished. Two patients presented a pattern of visual dependence...
April 2018: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/29760657/purkinje-cell-signaling-deficits-in-animal-models-of-ataxia
#5
REVIEW
Eriola Hoxha, Ilaria Balbo, Maria Concetta Miniaci, Filippo Tempia
Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia by altering the firing rate of PCs or their firing pattern. However, the relationship between specific firing alterations and motor symptoms is not yet clear, and in some cases PC dysfunction precedes the onset of ataxic signs. Moreover, a great variety of ionic and synaptic mechanisms can affect PC signaling, resulting in different features of motor dysfunction...
2018: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29760005/clinical-reasoning-progressive-cognitive-decline-cerebellar-ataxia-recurrent-myoclonus-and-epilepsy
#6
Fei Xiao, Jingchuan Fan, Jiaze Tan, Xue-Feng Wang
No abstract text is available yet for this article.
May 15, 2018: Neurology
https://www.readbyqxmd.com/read/29758256/reduction-of-protein-kinase-a-mediated-phosphorylation-of-atxn1-s776-in-purkinje-cells-delays-onset-of-ataxia-in-a-sca1-mouse-model
#7
Judit M Pérez Ortiz, Nissa Mollema, Nicholas Toker, Carolyn J Adamski, Brennon O'Callaghan, Lisa Duvick, Jillian Friedrich, Michael A Walters, Jessica Strasser, Jon E Hawkinson, Huda Y Zoghbi, Christine Henzler, Harry T Orr, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine (polyQ) repeat neurodegenerative disease in which a primary site of pathogenesis are cerebellar Purkinje cells. In addition to polyQ expansion of ataxin-1 protein (ATXN1), phosphorylation of ATXN1 at the serine 776 residue (ATXN1-pS776) plays a significant role in protein toxicity. Utilizing a biochemical approach, pharmacological agents and cell-based assays, including SCA1 patient iPSC-derived neurons, we examine the role of Protein Kinase A (PKA) as an effector of ATXN1-S776 phosphorylation...
May 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29756227/the-genetic-nomenclature-of-recessive-cerebellar-ataxias
#8
REVIEW
Malco Rossi, Mathieu Anheim, Alexandra Durr, Christine Klein, Michel Koenig, Matthis Synofzik, Connie Marras, Bart P van de Warrenburg
The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity. Because of several limitations, the current classification systems provide insufficient guidance for clinicians and researchers. Here, we propose a new nomenclature for the genetically confirmed recessive cerebellar ataxias according to the principles and criteria laid down by the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29753755/polarization-sensitive-optical-coherence-tomography-reveals-gray-matter-and-white-matter-atrophy-in-sca1-mouse-models
#9
Chao J Liu, Orion Rainwater, H Brent Clark, Harry T Orr, Taner Akkin
Spinocerebellar ataxia type 1 (SCA1) is a fatal inherited neurodegenerative disease. In this study, we demonstrate the label-free optical imaging methodology that can detect, with a high degree of sensitivity, discrete areas of degeneration in the cerebellum of the SCA1 mouse models. We used ATXN1[82Q] and ATXN1[30Q]-D776 mice in which the transgene is directed only to Purkinje cells. Molecular layer, granular layer, and white matter regions are analyzed using the intrinsic contrasts provided by polarization-sensitive optical coherence tomography...
May 10, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29746896/insights-into-cerebellar-development-and-connectivity
#10
REVIEW
Jaclyn Beckinghausen, Roy V Sillitoe
The cerebellum has a well-established role in controlling motor functions such coordination, balance, posture, and skilled learning. There is mounting evidence that it might also play a critical role in non-motor functions such as cognition and emotion. It is therefore not surprising that cerebellar deficits are associated with a wide array of diseases including ataxia, dystonia tremor, schizophrenia, dyslexia, and autism spectrum disorder. What is intriguing is that a seemingly uniform circuit that is often described as being "simple" should carry out all of these behaviors...
May 7, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29746398/dystonia-as-a-network-disorder-a-concept-in-evolution
#11
Tommaso Schirinzi, Giuseppe Sciamanna, Nicola B Mercuri, Antonio Pisani
PURPOSE OF REVIEW: This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries from dystonia rodent models aimed at discussing the pathogenesis of dystonia. RECENT FINDINGS: One common recurrent term that emerges when describing dystonia is heterogeneity. Indeed, dystonia encompasses a wide group of 'hyperkinetic' movement disorders, with heterogeneous causes, classification, anatomical and physiological substrates...
May 8, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29741614/loss-of-cerebellar-glutamate-transporters-eaat4-and-glast-differentially-affects-the-spontaneous-firing-pattern-and-survival-of-purkinje-cells
#12
Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka, Jeffrey D Rothstein, Paul Skehel, David J A Wyllie, Mandy Jackson
Loss of excitatory amino acid transporters (EAATs) has been implicated in a number of human diseases including spinocerebellar ataxias, Alzhiemer's disease and motor neuron disease. EAAT4 and GLAST/EAAT1 are the two predominant EAATs responsible for maintaining low extracellular glutamate levels and preventing neurotoxicity in the cerebellum, the brain region essential for motor control. Here using genetically modified mice we identify new critical roles for EAAT4 and GLAST/EAAT1 as modulators of Purkinje cell (PC) spontaneous firing patterns...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29740943/vanishing-white-matter-a-leukodystrophy-due-to-astrocytic-dysfunction
#13
Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S van der Knaap
VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. It is dominated by cerebellar ataxia and susceptible to stresses that act as factors provoking disease onset or episodes of rapid neurological deterioration possibly leading to death. VWM is caused by mutations in any of the genes encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740392/anti-saccades-in-cerebellar-ataxias-reveal-a-contribution-of-the-cerebellum-in-executive-functions
#14
Elena Pretegiani, Pietro Piu, Francesca Rosini, Pamela Federighi, Valeria Serchi, Gemma Tumminelli, Maria Teresa Dotti, Antonio Federico, Alessandra Rufa
Objective: Increasing evidence suggests a cerebellar contribution to modulate cognitive aspects of motor behavior and executive functions. Supporting findings come from studies on patients with neurodegenerative diseases, in which however, given the extent of the disease, the specific role of the cerebellum, could not be clearly isolated. Anti-saccades are considered a sensitive tool to test executive functions. The anti-saccade underlying neural network, consisting of different cortical areas and their downstream connections including the lateral cerebellum, has been largely clarified...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29740390/a-novel-variant-in-abcd1-gene-presenting-as-adolescent-onset-atypical-adrenomyeloneuropathy-with-spastic-ataxia
#15
Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#16
REVIEW
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29737427/serum-neurofilament-light-is-increased-in-multiple-system-atrophy-of-cerebellar-type-and-in-repeat-expansion-spinocerebellar-ataxias-a-pilot-study
#17
Carlo Wilke, Friedemann Bender, Stefanie N Hayer, Kathrin Brockmann, Ludger Schöls, Jens Kuhle, Matthis Synofzik
Blood biomarkers in degenerative ataxias are still largely missing. Here, we aimed to provide piloting proof-of-concept that serum Neurofilament light (NfL) could offer a promising peripheral blood biomarker in degenerative ataxias. Specifically, as a marker of neuronal damage, NfL might (1) help to differentiate multiple system atrophy of cerebellar type (MSA-C) from sporadic adult-onset ataxia (SAOA), and (2) show increases in repeat-expansion spinocerebellar ataxias (SCAs) which might be amenable to treatment in the future...
May 8, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29736264/clinical-management-of-friedreich-s-ataxia-a-report-of-two-cases
#18
Yannis Dionyssiotis, Athina Kapsokoulou, Anna Danopoulou, Maria Kokolaki, Athina Vadalouka
Introduction: Friedreich's ataxia (FDRA) is the most common autosomal recessive, early-onset ataxia. FDRA is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal cord resulting in sensory ataxia. It manifests in initial symptoms of poor coordination and gait disturbance. Case presentation: We present two cases, a brother (54 years old) and sister (56 years old), with FDRA that are chronically institutionalized for incomplete quadriplegia without spasticity...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29732603/sox2-conditional-mutation-in-mouse-causes-ataxic-symptoms-cerebellar-vermis-hypoplasia-and-postnatal-defects-of-bergmann-glia
#19
Valentina Cerrato, Sara Mercurio, Ketty Leto, Elisa Fucà, Eriola Hoxha, Sara Bottes, Miriam Pagin, Marco Milanese, Chew-Yee Ngan, Giulia Concina, Sergio Ottolenghi, Chia-Lin Wei, Giambattista Bonanno, Giulio Pavesi, Filippo Tempia, Annalisa Buffo, Silvia K Nicolis
Sox2 is a transcription factor active in the nervous system, within different cell types, ranging from radial glia neural stem cells to a few specific types of differentiated glia and neurons. Mutations in the human SOX2 transcription factor gene cause various central nervous system (CNS) abnormalities, involving hippocampus and eye defects, as well as ataxia. Conditional Sox2 mutation in mouse, with different Cre transgenes, previously recapitulated different essential features of the disease, such as hippocampus and eye defects...
May 6, 2018: Glia
https://www.readbyqxmd.com/read/29731275/cerebrotendinous-xanthomatosis-ataxia-responsive-to-cdca-and-riluzole
#20
Ted Weissfeld, Jeffrey Ratliff
Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the standard medical therapy, resulting in decreased cholestanol synthesis, however, neurologic improvement is typically not seen. Riluzole may have a symptomatic benefit in ataxia from a presumed protective effect on Purkinje cells. To date, there are no reports of symptomatic improvement in CTX related ataxia following treatment with Riluzole...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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