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Degenerative cerebellar ataxia

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Feng Jing, Dan Yang, Tao Chen
Spinocerebellar ataxia type 2 (SCA2) is a rare autosomal dominant progressive degenerative disease of the nervous system, which is characterized by a progressive cerebellar syndrome associated with saccadic eye scan, peripheral neuropathy, cognitive disorders, and other multisystem features. The gene predisposing to SCA2 has been mapped, which encodes the ataxin 2 protein. A CAG repeat expansion in the coding region of ATXN2 gene can cause extension of polyglutamine chain in the protein. This paper reviews recent progress made in the research on SCA2 in regard to its clinical features, pathology, etiology, pathogenesis and treatment...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Kenji Sakai, Chiho Ishida, Yuko Kato-Motozaki, Atsuro Tagami, Kiyonobu Komai, Masahito Yamada
We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Typical neuropathological features of MSA, including degeneration of the striatum, pontine base and cerebellum with abundance of phosphorylated α-synuclein-positive neuronal and glial cytoplasmic and nuclear inclusions in the brain, were observed...
March 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Ryuta Morihara, Toru Yamashita, Kentaro Deguchi, Tomoko Kurata, Emi Nomura, Kota Sato, Yumiko Nakano, Yasuyuki Ohta, Nozomi Hishikawa, Takeshi Ikeuchi, Masataka Kitaguchi, Koji Abe
BACKGROUND & OBJECTIVE: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. METHODS: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. RESULTS: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke...
April 15, 2018: Journal of the Neurological Sciences
Shinji Kakei, Takahiro Ishikawa, Jongho Lee, Takeru Honda, Donna S Hoffman
BACKGROUND: In order to optimize outcomes of novel therapies for cerebellar ataxias (CAs), it is desirable to start these therapies while declined functions are restorable: i.e. while the so-called cerebellar reserve remains. OBJECTIVE: In this mini-review, we tried to define and discuss the cerebellar reserve from physiological and morphological points of view. METHOD: The cerebellar neuron circuitry is designed to generate spatiotemporally organized outputs, regardless of the region...
2018: CNS & Neurological Disorders Drug Targets
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 transcriptional changes detectable as early as a week after birth in SCA1-knockin mice. Given the importance of this postnatal period for cerebellar development, we asked whether this region might be developmentally altered by mutant ATXN1...
June 1, 2018: Journal of Clinical Investigation
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