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Cerebellar ataxia

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https://www.readbyqxmd.com/read/28435670/type-1-metabotropic-glutamate-receptor-signaling-in-cerebellar-purkinje-cells-in-health-and-disease
#1
REVIEW
Masanobu Kano, Takaki Watanabe
The cerebellum is a brain structure involved in coordination, control, and learning of movements, as well as certain aspects of cognitive function. Purkinje cells are the sole output neurons from the cerebellar cortex and therefore play crucial roles in the overall function of the cerebellum. The type-1 metabotropic glutamate receptor (mGluR1) is a key "hub" molecule that is critically involved in the regulation of synaptic wiring, excitability, synaptic response, and synaptic plasticity of Purkinje cells. In this review, we aim to highlight how mGluR1 controls these events in Purkinje cells...
2017: F1000Research
https://www.readbyqxmd.com/read/28431612/xeroderma-pigmentosum-complementation-group-f-a-rare-cause-of-cerebellar-ataxia-with-chorea
#2
G Carré, C Marelli, M Anheim, C Geny, M Renaud, H R Rezvani, M Koenig, C Guissart, C Tranchant
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28423040/inheritance-patterns-of-atcct-repeat-interruptions-in-spinocerebellar-ataxia-type-10-sca10-expansions
#3
Ivette Landrian, Karen N McFarland, Jilin Liu, Connie J Mulligan, Astrid Rasmussen, Tetsuo Ashizawa
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats...
2017: PloS One
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#4
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#5
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28419566/perirhinal-accumulation-of-neuronal-alpha-synuclein-in-a-multiple-system-atrophy-patient-with-dementia
#6
Mari Saito, Makoto Hara, Momoko Ebashi, Akihiko Morita, Kyoko Okada, Taku Homma, Masahiko Sugitani, Kentaro Endo, Toshiki Uchihara, Satoshi Kamei
We report the case of a 79-year-old Japanese woman who developed cerebellar ataxia followed by rigidity, dysautonomia and cognitive disorders, and was thus clinically diagnosed as having possible MSA with dementia. Neuropathological findings demonstrated not only olivopontocerebellar and striatonigral degeneration with frequent glial cytoplasmic inclusions (GCIs), but also degenerative changes in the parahippocampal region, accentuated in the anterior portion of perirhinal cortex, where neuronal cytoplasmic inclusions (NCIs) and NFTs were numerous while GCIs were limited...
April 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28417137/adult-onset-sporadic-cerebellar-ataxia-in-singapore-diagnostic-outcomes-of-paraneoplastic-antibody-testing-and-early-clinical-features-of-paraneoplastic-cerebellar-degeneration
#7
Zheyu Xu, Jinglin Zhang, Samuel Ye Ng, Josiah Yh Chai, Louis Cs Tan
No abstract text is available yet for this article.
March 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/28416787/a-family-with-hereditary-cerebellar-ataxia-finally-confirmed-as-gerstmann-straussler-scheinker-syndrome-with-p102l-mutation-in-prnp-gene
#8
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#9
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28405024/antisense-oligonucleotide-therapy-for-spinocerebellar-ataxia-type-2
#10
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis, Stefan M Pulst
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease. Both models recreate the progressive adult-onset dysfunction and degeneration of a neuronal network that are seen in patients, including decreased firing frequency of cerebellar Purkinje cells and a decline in motor function. We developed a potential therapy directed at the ATXN2 gene by screening 152 antisense oligonucleotides (ASOs)...
April 20, 2017: Nature
https://www.readbyqxmd.com/read/28402445/de-novo-p-t362r-mutation-in-morc2-causes-early-onset-cerebellar-ataxia-axonal-polyneuropathy-and-nocturnal-hypoventilation
#11
Ginevra Zanni, Marta Nardella, Sabina Barresi, Emanuele Bellacchio, Marcello Niceta, Andrea Ciolfi, Stefano Pro, Stefano D'Arrigo, Marco Tartaglia, Enrico Bertini
No abstract text is available yet for this article.
April 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28397001/gait-ataxia-in-humans-vestibular-and-cerebellar-control-of-dynamic-stability
#12
Roman Schniepp, Ken Möhwald, Max Wuehr
During human locomotion, vestibular feedback control is fundamental for maintaining dynamic stability and adapting the gait pattern to external circumstances. Within the supraspinal locomotor network, the cerebellum represents the key site for the integration of vestibular feedback information. The cerebellum is further important for the fine-tuning and coordination of limb movements during walking. The aim of this review article is to highlight the shared structural and functional sensorimotor principles in vestibular and cerebellar locomotion control...
April 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28395678/systemic-lupus-erythematosus-a-possible-cause-of-non-alcoholic-wernicke-s-encephalopathy
#13
M T L Nyo, D Magazi, M M T M Ally
We report a young woman with systemic lupus erythematosus (SLE) and an acute cerebellar ataxia. A history of poor appetite and vomiting preceded the inco-ordination. Ataxia in SLE has been well described, but is nevertheless uncommon. The clinical triad of mild confusion, ataxia and ophthalmoplegia also raised the possibility of Wernicke's encephalopathy (WE). The diagnosis of WE was further supported by the magnetic resonance imaging features. Owing to overlapping causal factors, this case illustrates the complexity of diagnosing and managing neuropsychiatric syndromes in a patient with SLE...
March 29, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28394027/changes-in-the-cell-population-in-brain-white-matter-in-multiple-system-atrophy
#14
Charlotte Havelund Nykjaer, Tomasz Brudek, Lisette Salvesen, Bente Pakkenberg
BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder with adult onset and unknown etiology. Clinically it is characterized by autonomic failure, cerebellar ataxia, parkinsonism, and corticospinal dysfunction in any combination and with varying severity. OBJECTIVES AND METHODS: To establish the extent of involvement of the white matter in the disease, we have used stereology to quantify the total number of neurons and glial cells (oligodendrocytes, astrocytes, and microglia) in the brains from 10 MSA patients and 11 controls...
April 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28393013/neural-substrates-of-motor-and-cognitive-dysfunctions-in-sca2-patients-a-network-based-statistics-analysis
#15
G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. It has been shown that patients affected by SCA2 present also cognitive impairments and psychiatric symptoms. The cerebellum is known to modulate cortical activity and to contribute to distinct functional networks related to higher-level functions beyond motor control. It is therefore conceivable that one or more networks, rather than isolated regions, may be dysfunctional in cerebellar degenerative diseases and that an abnormal connectivity within specific cerebello-cortical regions might explain the widespread deficits typically observed in patients...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#16
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28386793/spinal-cord-damage-in-spinocerebellar-ataxia-type-1
#17
Carlos Roberto Martins, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Lucas Melo Teixeira Branco, José Luiz Pedroso, Orlando G P Barsottini, Iscia Lopes-Cendes, Marcondes C França
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner...
April 6, 2017: Cerebellum
https://www.readbyqxmd.com/read/28386688/beyond-the-midbrain-atrophy-wide-spectrum-of-structural-mri-finding-in-cases-of-pathologically-proven-progressive-supranuclear-palsy
#18
REVIEW
Keita Sakurai, Aya M Tokumaru, Keigo Shimoji, Shigeo Murayama, Kazutomi Kanemaru, Satoru Morimoto, Ikuko Aiba, Motoo Nakagawa, Yoshiyuki Ozawa, Masashi Shimohira, Noriyuki Matsukawa, Yoshio Hashizume, Yuta Shibamoto
PURPOSE: Recently, it has been recognized that pathologically proven progressive supranuclear palsy (PSP) cases are classified into various clinical subtypes with non-uniform symptoms and imaging findings. This article reviews essential imaging findings, general information, and advanced magnetic resonance imaging (MRI) techniques for PSP and presents these MRI findings of pathologically proven typical and atypical PSP cases for educational purposes. METHODS: With the review of literatures, notably including atypical pathologically proven PSP cases, MRI and clinical information of 15 pathologically proven typical and atypical PSP cases were retrospectively evaluated...
April 6, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28386581/paraneoplastic-cerebellar-degeneration-in-a-patient-with-a-primary-fallopian-tube-adenocarcinoma-a-case-report-and-brief-review
#19
Mario Campero, Alberto E Selman
We describe a 65-year-old woman with subacute cerebellar syndrome expressed as severe ataxia, and the presence of anti Purkinje cell antibodies (Anti-Yo). A small adnexal mass was only evident on PET CT with the pathological feature of fallopian tube adenocarcinoma. Anti-Yo antibodies have been strongly associated with paraneoplastic cerebellar degeneration, and nearly always associated to ovarian adenocarcinomas. Few cases have been reported in which this paraneoplastic syndrome has been related to fallopian tube adenocarcinoma...
May 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28386570/pathogenic-roles-of-glutamic-acid-decarboxylase-65-autoantibodies-in-cerebellar-ataxias
#20
REVIEW
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
Reports suggesting a pathogenic role of autoantibodies directed against glutamic acid decarboxylase 65 (GAD65Abs) in cerebellar ataxias (CAs) are reviewed, and debatable issues such as internalization of antibodies by neurons and roles of epitopes are discussed. GAD65 is one of two enzymes that catalyze the conversion of glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). A pathogenic role of GAD65Ab in CAs is suggested by in vivo and in vitro studies. (1) Intracerebellar administration of cerebrospinal fluid (CSF) immunoglobulins (IgGs) obtained from GAD65Ab-positive CA patients impairs cerebellar modulation of motor control in rats...
2017: Journal of Immunology Research
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