keyword
MENU ▼
Read by QxMD icon Read
search

spinocerebellar

keyword
https://www.readbyqxmd.com/read/28075481/diagnosis-of-spinocerebellar-ataxias-caused-by-trinucleotide-repeat-expansions
#1
Joanne E Martindale
Spinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms may have juvenile or infantile onset. There are many different types of SCA, demonstrating different modes of inheritance and types of mutation. The most common forms are due to dominantly inherited expansions in trinucleotide repeat sequences located within the coding region of the relevant genes, and these are readily identifiable by molecular genetic testing...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28072384/impact-of-cerebellar-atrophy-on-cortical-gray-matter-and-cerebellar-peduncles-as-assessed-by-voxel-based-morphometry-and-high-angular-resolution-diffusion-imaging
#2
Michael Dayan, G Olivito, M Molinari, Mara Cercignani, Marco Bozzali, M Leggio
In recent years the cerebellum has been attributed amore important role in higher-level functions than previously believed. We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial (MCP) and superior cerebellar peduncle (SCP) - namely fractional anisotropy (FA) and radial diffusivity (RD) - could be used as a biomarker in patients with this condition...
October 2016: Functional Neurology
https://www.readbyqxmd.com/read/28068987/effects-of-acetyl-dl-leucine-on-cerebellar-ataxia-alcat-trial-study-protocol-for-a-multicenter-multinational-randomized-double-blind-placebo-controlled-crossover-phase-iii-trial
#3
Katharina Feil, Christine Adrion, Julian Teufel, Sylvia Bösch, Jens Claassen, Ilaria Giordano, Holger Hengel, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Wolfgang Nachbauer, Ludger Schöls, Claudia Stendel, Ellen Uslar, Bart van de Warrenburg, Ingrid Berger, Ivonne Naumann, Otmar Bayer, Hans-Helge Müller, Ulrich Mansmann, Michael Strupp
BACKGROUND: Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-hereditary, non-acquired CA. So far, the only treatment recommendation is physiotherapy. Therefore, new therapeutic options are needed. Based on three observational studies, the primary objective of the acetyl-DL-leucine on ataxia (ALCAT) trial is to examine the efficacy and tolerability of a symptomatic therapy with acetyl-DL-leucine compared to placebo on motor function measured by the Scale for the Assessment and Rating of Ataxia (SARA) in patients with CA...
January 10, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28065793/polyglutamine-expansion-of-ataxin-3-alters-its-degree-of-ubiquitination-and-phosphorylation-at-specific-sites
#4
Line V Kristensen, Felix S Oppermann, Matthias J Rauen, Rasmus Hartmann-Petersen, Kenneth Thirstrup
Ubiquitination and phosphorylation of proteins represent post translational modifications (PTMs) capable of regulating a variety of cellular processes. In the neurodegenerative disorder spinocerebellar ataxia type 3 (SCA3), the disease causing protein ataxin-3 carries an expanded polyglutamine (polyQ) stretch causing it to aggregate in nuclear inclusions. These inclusions are decorated with ubiquitin suggestive of a malfunction in the clearance of the mutant protein. Differences in ubiquitin chain topology between normal and polyQ expanded ataxin-3 could be involved in the differential clearance of the two proteins and play a role in SCA3 pathogenesis...
January 5, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28062563/pathology-of-neurodegenerative-diseases
#5
Brittany N Dugger, Dennis W Dickson
Neurodegenerative disorders are characterized by progressive loss of selectively vulnerable populations of neurons, which contrasts with select static neuronal loss because of metabolic or toxic disorders. Neurodegenerative diseases can be classified according to primary clinical features (e.g., dementia, parkinsonism, or motor neuron disease), anatomic distribution of neurodegeneration (e.g., frontotemporal degenerations, extrapyramidal disorders, or spinocerebellar degenerations), or principal molecular abnormality...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28042641/progression-of-dysphagia-in-spinocerebellar-ataxia-type-6
#6
Chiharu Isono, Makito Hirano, Hikaru Sakamoto, Shuichi Ueno, Susumu Kusunoki, Yusaku Nakamura
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. Dysphagia is commonly associated with the outcomes of neurodegenerative diseases such as SCA6. Although the characteristics of dysphagia have been rarely reported in SCA6, our previous study indicated that dysphagia is generally milder in SCA6 than in SCA3, another inherited ataxia with multisystem involvement. However, abnormalities in the pharyngeal phase in SCA6 were indistinguishable from those in SCA3, with no explainable reason...
January 2, 2017: Dysphagia
https://www.readbyqxmd.com/read/28039539/a-wearable-proprioceptive-stabilizer-for-rehabilitation-of-limb-and-gait-ataxia-in-hereditary-cerebellar-ataxias-a-pilot-open-labeled-study
#7
Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casali
The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints...
December 31, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/28035676/new-old-drug-s-for-spinocerebellar-ataxias
#8
Visou Ady, Alanna J Watt
No abstract text is available yet for this article.
January 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28032667/caffeine-alleviates-progressive-motor-deficits-in-a-transgenic-mouse-model-of-spinocerebellar-ataxia
#9
Nélio Gonçalves, Ana T Simões, Rui S Prediger, Hirokazu Hirai, Rodrigo A Cunha, Luís Pereira de Almeida
OBJECTIVE: Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy. We previously showed that caffeine, a non-selective adenosine receptor antagonist, delays the appearance of striatal damage resulting from expression of full-length mutant ataxin-3. Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells...
December 29, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28032320/no-medium-term-spinocerebellar-input-plasticity-in-deep-cerebellar-nuclear-neurons-in-vivo
#10
Hannes Mogensen, Fredrik Bengtsson, Henrik Jörntell
The existence of input plasticity in the deep cerebellar nuclear (DCN) cells of the adult cerebellum could have profound implications for our understanding of cerebellar function. Whereas the existence of plastic changes in mossy fiber (mf) synaptic responses in DCN neurons has been demonstrated in juvenile slices, there has so far been no direct demonstration of this form of plasticity in the adult cerebellum in vivo. In the present paper, we recorded from neurons in the anterior interposed nucleus (AIN) and stimulated the spinocerebellar tracts (SCT) directly or via the skin to obtain mf activation and the inferior olive to activate climbing fibers (cfs) in the nonanesthetized, adult, decerebrated cat...
December 28, 2016: Cerebellum
https://www.readbyqxmd.com/read/28029261/modeling-the-effect-of-monomer-conformational-change-on-the-early-stage-of-protein-self-assembly-into-fibrils
#11
Dimo Kashchiev
Filamentous self-assembly of proteins is an important process implicated in a plethora of human diseases and of interest for nanotechnology. Using rate equations, we analyze the early stage of the process in solutions that initially contain fibrillation-passive protein monomers and in which the nascent fibrils are practically insoluble. The analysis is based on a model accounting for the conformational and/or other changes the passive monomers experience to transform themselves into fibrillation-active monomers and thus become fibril nuclei...
December 28, 2016: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28025946/proteolytic-cleavage-of-polyglutamine-disease-causing-proteins-revisiting-the-toxic-fragment-hypothesis
#12
Carlos A Matos, Luís Pereira de Almeida, Clévio Nóbrega
Proteolytic cleavage has been implicated in the pathogenesis of diverse neurodegenerative diseases involving abnormal protein accumulation. Polyglutamine diseases are a group of nine hereditary disorders caused by an abnormal expansion of repeated glutamine tracts contained in otherwise unrelated proteins. When expanded, these proteins display toxic properties and are prone to aggregate, but the mechanisms responsible for the selective neurodegeneration observed in polyglutamine disease patients are still poorly understood...
December 27, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28018166/motor-dysfunctions-and-neuropathology-in-mouse-models-of-spinocerebellar-ataxia-type-2-a-comprehensive-review
#13
REVIEW
João M Da Conceição Alves-Cruzeiro, Liliana Mendonça, Luís Pereira de Almeida, Clévio Nóbrega
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia caused by an expansion of CAG repeats in the exon 1 of the gene ATXN2, conferring a gain of toxic function that triggers the appearance of the disease phenotype. SCA2 is characterized by several symptoms including progressive gait ataxia and dysarthria, slow saccadic eye movements, sleep disturbances, cognitive impairments, and psychological dysfunctions such as insomnia and depression, among others. The available treatments rely on palliative care, which mitigate some of the major symptoms but ultimately fail to block the disease progression...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28017852/anxiety-and-risk-assessment-related-traits-in-a-rat-model-of-spinocerebellar-ataxia-type-17
#14
Elisavet I Kyriakou, Giuseppe Manfré, Jesús A Spadaro, Huu Phuc Nguyen, Johanneke E Van der Harst, Judith R Homberg
Anxiety as a common feature of several neurodegenerative/polyglutamine diseases is an important aspect for the face validity of an animal model for Spinocerebellar Ataxia type 17 (SCA17). Risk assessment and anxiety-like traits were characterised in 3-6-9 months old rats of a transgenic model for SCA17 using the standard behavioural test elevated plus maze. In addition, c-Fos immunostainings in the basolateral amygdala evaluated neuronal activation in correlation to the behavioural responses. The most prominent behavioural effect was a higher level of risk assessment in the transgenic rats...
December 23, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/28017249/slowly-progressive-d-bifunctional-protein-deficiency-with-survival-to-adulthood-diagnosed-by-whole-exome-sequencing
#15
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
d-Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4. It is typically fatal by the age of two years with symptom onset during the neonatal period, and survival until late childhood is rare. We herein report the case of a patient with DBP deficiency surviving until adulthood, who showed severe sensorineural deafness, disturbances in language acquisition, slowly progressive cerebellar ataxia, and peripheral neuropathy. This patient, in whom findings of prior investigations were nondiagnostic, had been followed up as having an early-onset spinocerebellar degeneration of unknown etiology...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28017238/association-of-glutathione-s-transferase-omega-polymorphism-and-spinocerebellar-ataxia-type-2
#16
Luis E Almaguer-Mederos, Dennis Almaguer-Gotay, Raúl Aguilera-Rodríguez, Yanetza González-Zaldívar, Dany Cuello-Almarales, José Laffita-Mesa, Yaimé Vázquez-Mojena, Pedro Zayas-Feria, Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Patrick MacLeod
BACKGROUND: Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by a CAG repeat expansion in ATXN2 gene. There is high clinical variability among affected patients suggesting the occurring of modifier genes influencing the clinical phenotype. OBJECTIVE: The objective is to assess the association of GSTO1 rs4925 and GSTO2 rs2297235 SNPs on the clinical phenotype in SCA2 patients. METHODS: A case-control study was performed in a sample of 120 SCA2 Cuban patients and 100 healthy subjects...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27999335/mutant-cag-repeats-effectively-targeted-by-rna-interference-in-sca7-cells
#17
Agnieszka Fiszer, Joanna P Wroblewska, Bartosz M Nowak, Wlodzimierz J Krzyzosiak
Spinocerebellar ataxia type 7 (SCA7) is a human neurodegenerative polyglutamine (polyQ) disease caused by a CAG repeat expansion in the open reading frame of the ATXN7 gene. The allele-selective silencing of mutant transcripts using a repeat-targeting strategy has previously been used for several polyQ diseases. Herein, we demonstrate that the selective targeting of a repeat tract in a mutant ATXN7 transcript by RNA interference is a feasible approach and results in an efficient decrease of mutant ataxin-7 protein in patient-derived cells...
December 17, 2016: Genes
https://www.readbyqxmd.com/read/27989483/clinical-study-of-seven-patients-with-infarction-in-territories-of-the-anterior-inferior-cerebellar-artery
#18
Katsuhiko Ogawa, Yutaka Suzuki, Keiko Takahashi, Takayoshi Akimoto, Satoshi Kamei, Masayoshi Soma
BACKGROUND: The prominent features of anterior inferior cerebellar artery (AICA) infarction are vertigo, cerebellar ataxia, and impaired hearing. The present study investigated neurological characteristics associated with AICA infarction. MATERIALS AND METHODS: The locations of infarcts in 7 patients (age, 32-72 years) with AICA infarction were divided into the lower lateral pons, the middle cerebellar peduncle (MCP), and the cerebellum. RESULTS: Ischemic lesions were located in the MCP in 6 patients, spread to the lower lateral pons in 3, and involved the cerebellum in 4 patients...
December 15, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27984628/-report-of-a-pedigree-affected-with-spinocerebellar-ataxia-type-1
#19
Dan Geng, Qianqian Wei, Huifang Shang
No abstract text is available yet for this article.
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27979829/polyglutamine-length-dependent-toxicity-from-%C3%AE-1act-in-drosophila-models-of-spinocerebellar-ataxia-type-6
#20
Wei-Ling Tsou, Sultan H Qiblawi, Ryan R Hosking, Christopher M Gomez, Sokol V Todi
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that results from abnormal expansion of a polyglutamine (polyQ) repeat. SCA6 is caused by CAG triplet repeat expansion in the gene CACNA1A, resulting in a polyQ tract of 19-33 in patients. CACNA1A, a bicistronic gene, encodes the α1A calcium channel subunit and the transcription factor, α1ACT. PolyQ expansion in α1ACT causes degeneration in mice. We recently described the first Drosophila models of SCA6 that express α1ACT with a normal (11Q) or hyper-expanded (70Q) polyQ...
December 15, 2016: Biology Open
keyword
keyword
36062
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"