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Cerebellar ataxia

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https://www.readbyqxmd.com/read/28229372/measuring-inhibition-and-cognitive-flexibility-in-friedreich-ataxia
#1
Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatycki
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA...
February 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28216058/sca13-causes-dominantly-inherited-non-progressive-myoclonus-ataxia
#2
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Jean Muller, André Pierre Legrand, Alexandra Durr, Vincent Laugel, Michel Koenig, Christine Tranchant, Mathieu Anheim
INTRODUCTION: Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. METHODS: We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers...
February 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28195350/overcoming-the-divide-between-ataxias-and-spastic-paraplegias-shared-phenotypes-genes-and-pathways
#3
REVIEW
Matthis Synofzik, Rebecca Schüle
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other...
February 14, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28195034/treatment-of-spinocerebellar-ataxia-with-mesenchymal-stem-cells-a-phase-i-iia-clinical-study
#4
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, YiChen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K Lee, Bing-Wen Soong
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there isn’tany effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases. We hereby report the results of a phase I/IIa clinical study conducted in Taiwan to primarily evaluate the safety, tolerability and, secondarily, the possible efficacy of intravenous administration of allogeneic adipose tissuederived MSCs from healthy donors...
February 14, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#5
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28193238/transient-ikk2-activation-in-astrocytes-initiates-selective-non-cell-autonomous-neurodegeneration
#6
Michael Lattke, Stephanie N Reichel, Alexander Magnutzki, Alireza Abaei, Volker Rasche, Paul Walther, Dinis P Calado, Boris Ferger, Thomas Wirth, Bernd Baumann
BACKGROUND: Neuroinflammation is associated with a wide range of neurodegenerative disorders, however the specific contribution to individual disease pathogenesis and selective neuronal cell death is not well understood. Inflammatory cerebellar ataxias are neurodegenerative diseases occurring in various autoimmune/inflammatory conditions, e.g. paraneoplastic syndromes. However, how inflammatory insults can cause selective cerebellar neurodegeneration in the context of these diseases remains open, and appropriate animal models are lacking...
February 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28187749/identification-of-a-large-intronic-transposal-insertion-in-slc17a5-causing-sialic-acid-storage-disease
#7
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D M van Karnebeek, Maria Blomqvist
BACKGROUND: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28179632/clinical-exome-sequencing-for-cerebellar-ataxia-and-spastic-paraplegia-uncovers-novel-gene-disease-associations-and-unanticipated-rare-disorders
#8
Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl Aap Willemsen, Hans Scheffer, Erik-Jan Kamsteeg
No abstract text is available yet for this article.
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28176975/familial-aggregation-of-the-cerebellar-signs-in-familial-essential-tremor
#9
Elan D Louis, Nora Hernandez, Karen P Chen, Kelly V Naranjo, Jemin Park, Lorraine N Clark, Ruth Ottman
BACKGROUND: Although the hallmark feature of essential tremor (ET) is kinetic tremor, patients may exhibit additional motor features (e.g., intention tremor and mild gait ataxia) that are markers of an underlying abnormality of cerebellar function. ET is also a highly familial disorder, but we do not know whether the presence and expression of cerebellar signs are similar across family members. There are simply no published data. The alternative possibility is that these features are not heritable...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28167673/ubiquitin-ligase-rnf138-promotes-episodic-ataxia-type-2-associated-aberrant-degradation-of-human-cav2-1-p-q-type-calcium-channels
#10
Ssu-Ju Fu, Chung-Jiuan Jeng, Chia-Hao Ma, Yi-Jheng Peng, Chi-Ming Lee, Ya-Ching Fang, Yi-Ching Lee, Sung-Chun Tang, Meng-Chun Hu, Chih-Yung Tang
: Voltage-gated CaV2.1 channels comprise a pore-forming α1A (CaV2.1) subunit with auxiliary α2δ and β subunits. CaV2.1 channels play an essential role in regulating synaptic signaling. Mutations in the human gene encoding CaV2.1 subunit are associated with the cerebellar disease episodic ataxia type 2 (EA2). Several EA2-causing mutants exhibit impaired protein stability and exert dominant-negative suppression of CaV2.1 wild-type (WT) protein expression via aberrant proteasomal degradation...
February 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28166646/the-meanings-of-physiotherapy-and-exercise-for-people-living-with-progressive-cerebellar-ataxia-an-interpretative-phenomenological-analysis
#11
Elizabeth Cassidy, Sandra Naylor, Frances Reynolds
PURPOSE: To understand the meanings of exercise and physiotherapy for people living with a progressive cerebellar ataxia. METHOD: An interpretative phenomenological analysis was undertaken with 12 participants (4 women, 8 men) recruited via their membership of a national support group. Semistructured interviews were audiorecorded and transcribed. Data were analyzed using interpretivist methods. RESULTS: Two main themes were constructed. Firstly, participants highly valued building collaborative and supportive long-term therapeutic relationships with expert physiotherapists and were not necessarily looking to improve ataxia-related impairments...
February 6, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28143763/using-the-shared-genetics-of-dystonia-and-ataxia-to-unravel-their-pathogenesis
#12
REVIEW
Esther A R Nibbeling, Cathérine C S Delnooz, Tom J de Koning, Richard J Sinke, Hyder A Jinnah, Marina A J Tijssen, Dineke S Verbeek
In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach. The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement disorders linked to basal ganglia dysfunction, although evidence is now pointing to cerebellar involvement as well. Our gene co-expression network approach identified 99 shared genes and showed the involvement of two major pathways: synaptic transmission and neurodevelopment...
January 28, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28138907/sialidosis-type-1-with-a-novel-mutation-in-the-neuraminidase-1-neu1-gene
#13
Vykuntaraju K Gowda, Varun M Srinivasan, Naveen Benakappa, Asha Benakappa
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene...
January 31, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28131561/-fragile-x-syndrome-and-white-matter-abnormalities-case-study-of-two-brothers
#14
E Wallach, E Bieth, A Sevely, C Cances
Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a high methylation pattern lead to a transcriptional silence of the FMR1 gene, and the protein product, the FMRP, is not synthesized...
January 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28131204/thalamic-involvement-determined-using-vsrad-advance-on-mri-and-easy-z-score-analysis-of-99m-tc-ecd-spect-in-gerstmann-str%C3%A3-ussler-scheinker-syndrome-with-p102l-mutation
#15
Atsuhiko Sugiyama, Noriko Sato, Yukio Kimura, Tomoko Maekawa, Noritaka Wakasugi, Daichi Sone, Mikako Enokizono, Yuji Takahashi, Miho Murata, Hidehiro Mizusawa, Hiroshi Matsuda
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. Because of the relatively long disease course and the prominence of progressive cerebellar ataxia in the early stage, GSS102 is often misdiagnosed as other neurodegenerative disorders. We present two cases of genetically proven GSS102L, both of which present with atrophy and decreased blood flow of the thalamus as determined by voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) advance software and easy Z-score analysis for (99m)Tc-ethyl cysteinate dimer-SPECT, respectively...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28131191/potential-multisystem-degeneration-in-asidan-patients
#16
Yasuyuki Ohta, Toru Yamashita, Nozomi Hishikawa, Kota Sato, Kosuke Matsuzono, Keiichiro Tsunoda, Noriko Hatanaka, Mami Takemoto, Toshihiko Takemi, Kazuhiro Takamatsu, Koji Abe
OBJECTIVE: To evaluate a potential multisystem involvement of neurodegeneration in Asidan, in addition to cerebellar ataxia and signs of motor neuron disease. METHODS: We compared the new Asidan patients and those identified in previous studies with Parkinson's disease (PD, n=21), and progressive supranuclear palsy (PSP, n=13) patients using (123)I-2β-Carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane ((123)I-FP-CIT) dopamine transporter single photon emission computed tomography (DAT-SPECT) and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy (Asidan, DAT: n=10; MIBG: n=15)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28128652/extensive-microhemorrhages-of-the-cerebellar-peduncles-after-high-altitude-cerebral-edema
#17
Jacqueline Pichler Hefti, Philipp Hoigné-Perret, Raimund Kottke
Pichler Hefti, Jacqueline, Philipp Hoigné-Perret, and Raimund Kottke. Extensive microhemorrhages of the cerebellar peduncles after high-altitude cerebral edema. High Alt Med Biol 00:000-000, 2017.-Neuromagnetic resonance imaging (MRI) of subjects who suffered from high-altitude cerebral edema (HACE) typically shows cerebral microhemorrhages (MH) of the corpus callosum, in particular the splenium, and supratentorial white matter. This is a case report of a 43-year-old male, who suffered from unusually prolonged severe ataxia and amnesia after having been rescued during the ascent to Mount Everest at 6400 m...
January 27, 2017: High Altitude Medicine & Biology
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#18
Mridula Goswami, Anju S Rajwar, Mahesh Verma
: Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28123174/new-diagnosis-of-atypical-ataxia-telangiectasia-in-a-17-year-old-boy-with-t-cell-acute-lymphoblastic-leukemia-and-a-novel-atm-mutation
#19
Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28118383/methylmercury-causes-blood-brain-barrier-damage-in-rats-via-upregulation-of-vascular-endothelial-growth-factor-expression
#20
Tetsuya Takahashi, Masatake Fujimura, Misaki Koyama, Masato Kanazawa, Fusako Usuki, Masatoyo Nishizawa, Takayoshi Shimohata
Clinical manifestations of methylmercury (MeHg) intoxication include cerebellar ataxia, concentric constriction of visual fields, and sensory and auditory disturbances. The symptoms depend on the site of MeHg damage, such as the cerebellum and occipital lobes. However, the underlying mechanism of MeHg-induced tissue vulnerability remains to be elucidated. In the present study, we used a rat model of subacute MeHg intoxication to investigate possible MeHg-induced blood-brain barrier (BBB) damage. The model was established by exposing the rats to 20-ppm MeHg for up to 4 weeks; the rats exhibited severe cerebellar pathological changes, although there were no significant differences in mercury content among the different brain regions...
2017: PloS One
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