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Degenerative cerebellar ataxia

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https://www.readbyqxmd.com/read/30552638/what-is-behind-cerebellar-vertigo-and-dizziness
#1
Katharina Feil, Ralf Strobl, Alexander Schindler, Siegbert Krafczyk, Nicolina Goldschagg, Claudia Frenzel, Miriam Glaser, Florian Schöberl, Andreas Zwergal, Michael Strupp
The differential diagnosis of vertigo or dizziness as a result of cerebellar disorders can be difficult as many patients with a cerebellar pathology do not present with the full spectrum of cerebellar signs. The main goal of this study was to describe the typical clinical features of these patients with vertigo or dizziness of a cerebellar origin. We reviewed the medical records of 5400 patients with vertigo and dizziness from our tertiary outpatient clinic for vertigo and balance disorders. In 459 the diagnosis of "cerebellar vertigo or dizziness" was made; 90 patients were excluded from further analysis due to evident structural changes in MRI...
December 14, 2018: Cerebellum
https://www.readbyqxmd.com/read/30487906/depressive-symptoms-in-friedreich-ataxia
#2
Antonieta Nieto, Atteneri Hernández-Torres, Javier Pérez-Flores, Fernando Montón
Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed. Method: The study groups consisted of 57 patients with a diagnosis of FRDA. The Beck Depression Inventory-II was used to assess symptoms of depression. Speed of information processing was measured with a Choice Reaction time task...
January 2018: International Journal of Clinical and Health Psychology: IJCHP
https://www.readbyqxmd.com/read/30468864/sil1-deficiency-causes-degenerative-changes-of-peripheral-nerves-and-neuromuscular-junctions-in-fish-mice-and-human
#3
Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos
BACKGROUND: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for proper protein processing, loss of SIL1 results in the accumulation of misshaped proteins. This accumulation likely damages and destroys cells in vulnerable tissues, leading to congenital cataracts, cerebellar ataxia, vacuolar myopathy and other MSS phenotypes...
November 20, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/30430184/abnormal-eyeblink-conditioning-is-an-early-marker-of-cerebellar-dysfunction-in-preclinical-sca3-mutation-carriers
#4
J van Gaalen, R P P W M Maas, E F Ippel, M W Elting, K Y van Spaendonck-Zwarts, S Vermeer, C Verschuuren-Bemelmans, D Timmann, Bart P van de Warrenburg
BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of autosomal dominantly inherited degenerative diseases. As the pathological process probably commences years before the first appearance of clinical symptoms, preclinical carriers of a SCA mutation offer the opportunity to study the earliest stages of cerebellar dysfunction and degeneration. Eyeblink classical conditioning (EBCC) is a motor learning paradigm, crucially dependent on the integrity of the olivocerebellar circuit, and has been shown to be able to detect subtle alterations of cerebellar function, which might already be present in preclinical carriers...
November 14, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/30400801/ibuprofen-prevents-progression-of-ataxia-telangiectasia-symptoms-in-atm-deficient-mice
#5
Chin Wai Hui, Xuan Song, Fulin Ma, Xuting Shen, Karl Herrup
BACKGROUND: Inflammation plays a critical role in accelerating the progression of neurodegenerative diseases, such as Alzheimer's disease (AD) and ataxia telangiectasia (A-T). In A-T mouse models, LPS-induced neuroinflammation advances the degenerative changes found in cerebellar Purkinje neurons both in vivo and in vitro. In the current study, we ask whether ibuprofen, a non-steroidal anti-inflammatory drug (NSAID), can have the opposite effect and delay the symptoms of the disease. METHODS: We tested the beneficial effects of ibuprofen in both in vitro and in vivo models...
November 6, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/30191089/steroid-responsive-encephalopathy-associated-with-autoimmune-thyroiditis-sreat-presenting-with-pure-cerebellar-ataxia
#6
Pichet Termsarasab, Yuvadee Pitakpatapee, Steven J Frucht, Prachaya Srivanitchapoom
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported. Case report: We report 21- and 40-year-old females who presented with subacute pure ataxia without encephalopathy. After immunotherapies, both exhibited initial improvement of ataxia, and subsequently remained in plateau phase. Discussion: This treatable disorder should be added to the differential diagnoses of progressive cerebellar ataxia, and anti-thyroid peroxidase and anti-thyroglobulin should be considered as part of the workup...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/30113722/purkinje-cell-cox-deficiency-and-mtdna-depletion-in-an-animal-model-of-spinocerebellar-ataxia-type-1
#7
Michela Ripolone, Valeria Lucchini, Dario Ronchi, Gigliola Fagiolari, Andreina Bordoni, Francesco Fortunato, Stefania Mondello, Sara Bonato, Mirella Meregalli, Yvan Torrente, Stefania Corti, Giacomo P Comi, Maurizio Moggio, Monica Sciacco
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. Ataxia type 1 (SCA1) is caused by the expansion of a CAG trinucleotide repeat in the SCA1 gene resulting in the atypical extension of a polyglutamine (polyQ) tract within the ataxin-1 protein. Our main objective was to investigate the mitochondrial oxidative metabolism in the cerebellum of transgenic SCA1 mice. SCA1 transgenic mice develop clinical features in the early life stages (around 5 weeks of age) presenting pathological cerebellar signs with concomitant progressive Purkinje neuron atrophy and relatively little cell loss; this evidence suggests that the SCA1 phenotype is not the result of cell death per se, but a possible effect of cellular dysfunction that occurs before neuronal demise...
September 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/30084953/gdap2-mutations-implicate-susceptibility-to-cellular-stress-in-a-new-form-of-cerebellar-ataxia
#8
Ilse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, Tine Deconinck, Lisa van Ninhuijs, Jean-Jacques Martin, Rebecca Schüle, Stephan Züchner, Peter De Jonghe, Annette Schenck, Bart P van de Warrenburg
Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. Here, we report two unrelated patients with a new subtype of autosomal recessive cerebellar ataxia caused by biallelic, gene-disruptive mutations in GDAP2, a gene previously not implicated in disease. Both patients had onset of ataxia in the fourth decade. Other features included progressive spasticity and dementia. Neuropathological examination showed degenerative changes in the cerebellum, olive inferior, thalamus, substantia nigra, and pyramidal tracts, as well as tau pathology in the hippocampus and amygdala...
September 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30012604/astrocytes-restore-connectivity-and-synchronization-in-dysfunctional-cerebellar-networks
#9
Sivan Kanner, Miri Goldin, Ronit Galron, Eshel Ben Jacob, Paolo Bonifazi, Ari Barzilai
Evidence suggests that astrocytes play key roles in structural and functional organization of neuronal circuits. To understand how astrocytes influence the physiopathology of cerebellar circuits, we cultured cells from cerebella of mice that lack the ATM gene. Mutations in ATM are causative of the human cerebellar degenerative disease ataxia-telangiectasia. Cerebellar cultures grown from Atm -/- mice had disrupted network synchronization, atrophied astrocytic arborizations, reduced autophagy levels, and higher numbers of synapses per neuron than wild-type cultures...
July 31, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30006282/novel-biomarker-for-neurodegenerative-diseases-motor-neuron-disease-mnd-cerebellar-ataxia-ca-and-parkinson-s-disease-pd
#10
Shivani Pandey, Babita Singh, Satyndra Kumar Yadav, Abbas Ali Mahdi
Oxygen is the most mandatory component of living organism and it may at times produce highly reactive species, the free radicals, which are destructive to normal living tissues. Degenerative diseases of central nervous system (CNS) are quite common, contributing significantly to morbidity as well as mortality %. In neurodegenerative diseases such as motor neuron disease (MND), Cerebellar Ataxia (CA) and Parkinson's disease (PD), there is no direct evidence for involvement of metals and free radicals in the etiology but circumstantial evidence provides a hypothesis that alteration in metals and free radicals contribute to the pathogenesis of neurodegeneration in these disorders...
October 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29892257/focused-neuro-otological-review-of-superficial-siderosis-of-the-central-nervous-system
#11
Aran Yoo, Jonathan Jou, Jeffrey D Klopfenstein, Jorge C Kattah
Background: Infratentorial siderosis (iSS) is a progressive degenerative disorder targeting primarily the cerebellum and cranial nerve eighth; therefore, progressive ataxia and its neuro-otological findings are common. Toxicity from hemosiderin involves selectively vulnerable neurons and glia in these posterior fossa structures. Other neurologic findings may be present, though our focus relates to the cochlea-vestibular cerebellar involvement. Radiographic evidence of siderosis may be the result of recurrent, albeit covert bleeding in the subarachnoid space, or the consequence of an overt post-traumatic or aneurysmal subarachnoid hemorrhage (SAH)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29891062/essential-tremor-and-the-cerebellum
#12
REVIEW
Elan D Louis
Essential tremor (ET) is a progressive and highly prevalent neurologic disease. Along with the tremors, mild to moderate gait ataxia and other signs of cerebellar dysfunction may occur (i.e., subtle saccadic eye movement abnormalities and abnormalities of motor timing) as well as cognitive features, some of which may be due to cerebellar dysfunction. Numerous neuroimaging studies indicate the presence of functional, metabolic, and structural abnormalities in the cerebellum of a patient with ET. In tandem with these clinical and imaging studies, which were gathering increasing support for the notion that the cerebellum and/or cerebellar systems seemed to be at the root of ET, a growing postmortem literature is for the first time beginning to identify microscopic abnormalities in the ET brain, most of which are centered on the Purkinje cells and connected neuronal populations, and are likely to be degenerative...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29891061/epigenetic-cerebellar-diseases
#13
REVIEW
Mercedes Serrano
Epigenetics is a growing field of knowledge that is changing our understanding of pathologic processes. For many cerebellar disorders, recent discoveries of epigenetic mechanisms help us to understand their pathophysiology. In this chapter, a short explanation of each epigenetic mechanism (including methylation, histone modification, and miRNA) is followed by references to those cerebellar disorders in which relevant epigenetic advances have been made. The importance of normal timing and distribution of methylation during neurodevelopment is explained...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29880622/cerebellar-degeneration-in-primary-sj%C3%B3-gren-syndrome
#14
Mohammad Heidary, Samira Alesaeidi, Khashayar Afshari
Neurological manifestations are reported as a consequence of primary Sjӧgren syndrome (PSS). Any part of the brain and peripheral nervous system can be involved in PSS. However, cerebellar degeneration and atrophy associated with PSS have been rarely reported. Our report describes a 22-year-old woman who presented with cerebellar ataxia, arthritis and arthralgia. Evaluation of her symptoms, autoantibodies and salivary gland pathology was in favour of the diagnosis of Sjögren syndrome. Also, her brain MRI revealed cerebellar degeneration...
June 6, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29847609/dendritic-potassium-channel-dysfunction-may-contribute-to-dendrite-degeneration-in-spinocerebellar-ataxia-type-1
#15
Ravi Chopra, David D Bushart, Vikram G Shakkottai
Purkinje neuron dendritic degeneration precedes cell loss in cerebellar ataxia, but the basis for dendritic vulnerability in ataxia remains poorly understood. Recent work has suggested that potassium (K+) channel dysfunction and consequent spiking abnormalities contribute to Purkinje neuron degeneration, but little attention has been paid to how K+ channel dysfunction impacts dendritic excitability and the role this may play in the degenerative process. We examined the relationship between K+ channel dysfunction, dendritic excitability and dendritic degeneration in spinocerebellar ataxia type 1 (SCA1)...
2018: PloS One
https://www.readbyqxmd.com/read/29777722/ca-2-signaling-and-spinocerebellar-ataxia
#16
REVIEW
Chihiro Hisatsune, Kozo Hamada, Katsuhiko Mikoshiba
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite the great diversity and distinct functionalities of the SCA-related genes, accumulating evidence supports the occurrence of a common pathophysiological event among several hereditary SCAs...
May 16, 2018: Biochimica et biophysica acta. Molecular cell research
https://www.readbyqxmd.com/read/29777115/a-randomized-controlled-pilot-trial-of-game-based-training-in-individuals-with-spinocerebellar-ataxia-type-3
#17
Ray-Yau Wang, Fang-Yi Huang, Bing-Wen Soong, Shih-Fong Huang, Yea-Ru Yang
Exergames are interactive video games used for exercise and may have therapeutic value in people with degenerative ataxia. The purpose of this study was to investigate potential effects of exergaming training on cerebellar ataxia in people with spinocerebellar ataxia type 3 (SCA3). Nine individuals with SCA3 were recruited and randomized to either exergaming or conventional group for a 4-week training period. The severity of ataxia was measured as the primary outcome by the Scale for the Assessment and Rating of Ataxia (SARA) and by the directional control of the limit of stability test...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29756227/the-genetic-nomenclature-of-recessive-cerebellar-ataxias
#18
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...
July 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29746398/dystonia-as-a-network-disorder-a-concept-in-evolution
#19
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...
August 2018: Current Opinion 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
#20
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...
July 2018: Journal of Neurology
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