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Spinocerebellar ataxia

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https://www.readbyqxmd.com/read/28648514/neurological-phenotypes-in-spinocerebellar-ataxia-type-2-role-of-mitochondrial-polymorphism-a10398g-and-other-risk-factors
#1
Thais Lampert Monte, Fernanda Santos Pereira, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas Dorídio Locks-Coelho, Amanda Senna P Santos, José Luiz Pedroso, Orlando Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Laura Bannach Jardim
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is due to a CAG expansion (CAGexp) at ATXN2. SCA2 presents great clinical variability, alongside characteristic ataxia with saccadic slowness. AIMS: To study parkinsonism, dementia, dystonia, and amyotrophy as subphenotypes of SCA2, and to explore the effect of CAG repeats at different loci and of mitochondrial polymorphism A10398G as modifiers of phenotype. METHODS: Symptomatic subjects were classified by presence/absence of neurological signs mentioned above; SARA and NESSCA scores were obtained...
June 19, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28645341/spinocerebellar-ataxia
#2
Scott Wentz, Denis Jusufbegovic
No abstract text is available yet for this article.
July 2017: Ophthalmology
https://www.readbyqxmd.com/read/28638142/inter-generational-instability-of-inserted-repeats-during-transmission-in-spinocerebellar-ataxia-type-31
#3
Kunihiro Yoshida, Akira Matsushima, Katsuya Nakamura
The causative mutation for spinocerebellar ataxia type 31 (SCA31) is an intronic insertion containing pathogenic pentanucleotide repeats, (TGGAA)n. We examined to what degree the inserted repeats were unstable during transmission. In 14 parent-child pairs, the average change of onset age was -6.4±7.3 years (mean±s.d.) in the child generation when compared with the parent generation. Of the 11 pairs analyzed, six showed expansion of inserted repeat length during transmission, and five showed contraction. On average, the inserted repeats expanded by 12...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28637818/the-cerebellum-does-more-than-sensory-prediction-error-based-learning-in-sensorimotor-adaptation-tasks
#4
Peter A Butcher, Richard B Ivry, Sheng-Han Kuo, David Rydz, John W Krakauer, Jordan A Taylor
Individuals with damage to the cerebellum perform poorly in sensorimotor adaptation paradigms. This deficit has been attributed to impairment in sensory-prediction-error-based updating of an internal forward model, a form of implicit learning. These individuals can, however, successfully counter a perturbation when instructed with an explicit aiming strategy. This successful use of an instructed aiming strategy presents a paradox: In adaptation tasks, why don't individuals with cerebellar damage come up with an aiming solution on their own to compensate for their implicit learning deficit? To explore this question, we employed a variant of a visuomotor rotation task in which, prior to executing a movement on each trial, the participants verbally reported their intended aiming location...
June 21, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#5
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28634151/speech-and-swallowing-abnormalities-in-adults-with-polg-associated-ataxia-polg-a
#6
Adam P Vogel, Natalie Rommel, Andreas Oettinger, Marius Horger, Patrick Krumm, Eva-Maria Kraus, Ludger Schöls, Matthis Synofzik
BACKGROUND: Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials...
June 17, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28626410/neuromyelitis-optica-spectrum-disorder-coinciding-with-spinocerebellar-ataxia-type-31
#7
Yoshiaki Takahashi, Yasuhiro Manabe, Ryuta Morihara, Hisashi Narai, Toru Yamashita, Koji Abe
We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA31 is accidental. However, our case suggests that inflammatory processes could be involved in the pathogenesis of NMOSD and SCA31...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28624196/evaluation-of-antisense-oligonucleotides-targeting-atxn3-in-sca3-mouse-models
#8
Lauren R Moore, Gautam Rajpal, Ian T Dillingham, Maya Qutob, Kate G Blumenstein, Danielle Gattis, Gene Hung, Holly B Kordasiewicz, Henry L Paulson, Hayley S McLoughlin
The most common dominantly inherited ataxia, spinocerebellar ataxia type 3 (SCA3), is an incurable neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene that encodes an abnormally long polyglutamine tract in the disease protein, ATXN3. Mice lacking ATXN3 are phenotypically normal; hence, disease gene suppression offers a compelling approach to slow the neurodegenerative cascade in SCA3. Here we tested antisense oligonucleotides (ASOs) that target human ATXN3 in two complementary mouse models of SCA3: yeast artificial chromosome (YAC) MJD-Q84...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28620961/normal-atxn2-alleles-influences-on-the-age-at-onset-in-spinocerebellar-ataxia-type-2
#9
REVIEW
Luis E Almaguer-Mederos, Raúl Aguilera-Rodríguez, Dany Cuello-Almarales, Dennis Almaguer-Gotay, Yanetza González-Zaldívar, Yaimé Vázquez-Mojena, Nieves Santos-Falcón, Gilberto Sánchez-Cruz, Luis Velázquez-Pérez
No abstract text is available yet for this article.
June 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28620721/a-novel-gain-of-function-mutation-in-the-itpr1-suppressor-domain-causes-spinocerebellar-ataxia-with-altered-ca-2-signal-patterns
#10
Jillian P Casey, Taisei Hirouchi, Chihiro Hisatsune, Bryan Lynch, Raymond Murphy, Aimee M Dunne, Akitoshi Miyamoto, Sean Ennis, Nick van der Spek, Bronagh O'Hici, Katsuhiko Mikoshiba, Sally Ann Lynch
We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, and dysarthria. Whole exome sequencing identified a novel missense variant (c.106C>T; p.[Arg36Cys]) in the suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor gene (ITPR1) as the cause of the disorder, resulting in a molecular diagnosis of spinocerebellar ataxia type 29...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28619276/arginine-vasopressin-relates-with-spatial-learning-and-memory-in-a-mouse-model-of-spinocerebellar-ataxia-type-3
#11
Hong-Bo Jiang, Ai-Lin Du, Hai-Yang Luo, Jun Yang, Xiao-Qiu Luo, Rui-Qing Ma, Chang-He Shi, Yu-Ming Xu
Spinocerebellar ataxia is an inherited neurodegenerative disorder that the most prevalent type is type 3 (SCA3). Arginine vasopressin (AVP) is released within the lateral septum for controlling the learning and memory. This communication studied the effect of AVP on the spatial learning and memory of SCA3 mice. The spatial learning and memory were analyzed by Morris water maze test (MWM), and AVP concentration was measured by radioimmunoassay. The results showed that (Alves et al., 2010) the swimming velocity, distance traveled and latency to the platform of MWM in SCA3 mice were reduced slower than those in WT mice over 4 training days (p<0...
June 6, 2017: Neuropeptides
https://www.readbyqxmd.com/read/28612427/simulation-based-investigation-of-deleterious-nssnp-s-in-atxn2-gene-and-its-structural-consequence-towards-spinocerebellar-ataxia
#12
Siddharth Sinha, Sharad Verma, Aditi Singh, Pallavi Somvanshi, Abhinav Grover
Spinocerebellar degeneration, termed as ataxia is a neurological disorder of central nervous system, characterized by limb in-coordination and a progressive gait. The patient also demonstrates specific symptoms of muscle weakness, slurring of speech, and decreased vibration senses. Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2. Protein ataxin-2 coded by ATXN2 gene has been reported to have a crucial role in translation of the genetic information through sequestering the histone acetyl transferases (HAT) resulting in a state of hypo-acetylation...
June 14, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28605434/a-knockin-mouse-model-of-spinocerebellar-ataxia-type-3-exhibits-prominent-aggregate-pathology-and-aberrant-splicing-of-the-disease-gene-transcript
#13
Biswarathan Ramani, Ginny M Harris, Rogerio Huang, Takahiro Seki, Geoffrey G Murphy, Maria do Carmo Costa, Svetlana Fischer, Thomas L Saunders, Guangbin Xia, Richard C McEachin, Henry L Paulson
No abstract text is available yet for this article.
June 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28604978/-a-pedigree-affected-with-spinocerebellar-ataxia-type-iii
#14
Yu Geng
No abstract text is available yet for this article.
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28597910/a-complete-association-of-an-intronic-snp-rs6798742-with-origin-of-spinocerebellar-ataxia-type-7-cag-expansion-loci-in-the-indian-and-mexican-population
#15
Mohammed Faruq, Jonathan J Magaña, Varun Suroliya, Ankita Narang, Nadia M Murillo-Melo, Oscar Hernández-Hernández, Achal K Srivastava, Mitali Mukerji
Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls...
June 9, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28593048/neural-correlates-of-ataxia-severity-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#16
Carlos R Hernandez-Castillo, Rosalinda Diaz, Aurelio Campos-Romo, Juan Fernandez-Ruiz
BACKGROUND: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atrophy. A number of studies have used volumetric regional information to investigate the relationship between neurodegeneration and the ataxia severity. However, regional analysis can obscure the specific location in which the degenerative process is affecting the brain tissue, which can be crucial for the development of new target treatments for this disease...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28589261/nonmotor-symptoms-in-patients-with-spinocerebellar-ataxia-type-10
#17
Adriana Moro, Renato P Munhoz, Mariana Moscovich, Walter O Arruda, Salmo Raskin, Laura Silveira-Moriyama, Tetsuo Ashizawa, Hélio A G Teive
Nonmotor symptoms (NMS) have been described in several neurodegenerative diseases but have not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). The objective of the study is to compare the frequency of NMS in patients with SCA10, Machado-Joseph disease (MJD), and healthy controls. Twenty-eight SCA10, 28 MJD, and 28 healthy subjects were prospectively assessed using validated screening tools for chronic pain, autonomic symptoms, fatigue, sleep disturbances, psychiatric disorders, and cognitive function...
June 6, 2017: Cerebellum
https://www.readbyqxmd.com/read/28587229/ataxin-2-from-rna-control-to-human-health-and-disease
#18
REVIEW
Lauren A Ostrowski, Amanda C Hall, Karim Mekhail
RNA-binding proteins play fundamental roles in the regulation of molecular processes critical to cellular and organismal homeostasis. Recent studies have identified the RNA-binding protein Ataxin-2 as a genetic determinant or risk factor for various diseases including spinocerebellar ataxia type II (SCA2) and amyotrophic lateral sclerosis (ALS), amongst others. Here, we first discuss the increasingly wide-ranging molecular functions of Ataxin-2, from the regulation of RNA stability and translation to the repression of deleterious accumulation of the RNA-DNA hybrid-harbouring R-loop structures...
June 5, 2017: Genes
https://www.readbyqxmd.com/read/28579476/modeling-neurodegenerative-diseases-with-patient-derived-induced-pluripotent-cells-possibilities-and-challenges
#19
REVIEW
Anna Poon, Yu Zhang, Abinaya Chandrasekaran, Phetcharat Phanthong, Benjamin Schmid, Troels T Nielsen, Kristine K Freude
The rising prevalence of progressive neurodegenerative diseases coupled with increasing longevity poses an economic burden at individual and societal levels. There is currently no effective cure for the majority of neurodegenerative diseases and disease-affected tissues from patients have been difficult to obtain for research and drug discovery in pre-clinical settings. While the use of animal models has contributed invaluable mechanistic insights and potential therapeutic targets, the translational value of animal models could be further enhanced when combined with in vitro models derived from patient-specific induced pluripotent stem cells (iPSCs) and isogenic controls generated using CRISPR-Cas9 mediated genome editing...
June 2, 2017: New Biotechnology
https://www.readbyqxmd.com/read/28576936/%C3%AE-iii-spectrin-is-necessary-for-formation-of-the-constricted-neck-of-dendritic-spines-and-regulation-of-synaptic-activity-in-neurons
#20
Nadia Efimova, Farida Korobova, Michael C Stankewich, Andrew H Moberly, Donna B Stolz, Junling Wang, Anna Kashina, Minghong Ma, Tatyana Svitkina
Dendritic spines are postsynaptic structures in neurons often having a mushroom-like shape. Physiological significance and cytoskeletal mechanisms that maintain this shape are poorly understood. The spectrin-based membrane skeleton maintains the biconcave shape of erythrocytes, but whether spectrins also determine the shape of non-erythroid cells is less clear. We show that βIII spectrin in hippocampal and cortical neurons from rodent embryos of both sexes is distributed throughout the somatodendritic compartment, but is particularly enriched in the neck and base of dendritic spines and largely absent from spine heads...
June 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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