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Spinocerebellar ataxia

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https://www.readbyqxmd.com/read/28805093/monitoring-disease-progression-in-spinocerebellar-ataxias-implications-for-treatment-and-clinical-research
#1
Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Caterina Mariotti
Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials...
August 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28803513/mechanisms-of-unexpected-death-and-autopsy-findings-in-friedreich-ataxia
#2
Roger W Byard, John D Gilbert
A 36-year-old woman with a clinical history of Friedreich ataxia and hypertrophic cardiomyopathy was found unexpectedly dead at her home. The heart showed asymmetric left ventricular hypertrophy, with an interventricular septal thickness of 20-25 mm (the remainder of the left ventricular wall measured 15 mm). Histologically, both ventricles had irregular areas of marked myocyte hypertrophy with associated interstitial fibrosis and focal myofibre disarray. There was neuronal loss within the dentate nucleus of the cerebellum, with vacuolation and axonal loss in the dorsal columns and spinocerebellar tracts of the upper cervical spinal cord...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28799562/ophthalmic-features-of-spinocerebellar-ataxia-type-7
#3
A Campos-Romo, E O Graue-Hernandez, L Pedro-Aguilar, J C Hernandez-Camarena, D Rivera-De la Parra, V Galvez, R Diaz, A Jimenez-Corona, J Fernandez-Ruiz
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. Sixteen SCA7 patients underwent a comprehensive ophthalmic examination, including ocular extrinsic motility testing, color vision test, and optical coherence tomography of the optic nerve and macula. Changes in the corneal endothelium, electroretinographic patterns, and a complete neurologic evaluation using the Scale for the Assessment and Rating of Ataxia (SARA) were evaluated...
August 11, 2017: Eye
https://www.readbyqxmd.com/read/28791574/heterotopic-purkinje-cells-a-comparative-postmortem-study-of-essential-tremor-and-spinocerebellar-ataxias-1-2-3-and-6
#4
Elan D Louis, Sheng-Han Kuo, William J Tate, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Phyllis L Faust
Essential tremor (ET) is among the most common neurological diseases. Postmortem studies have noted a series of pathological changes in the ET cerebellum. Heterotopic Purkinje cells (PCs) are those whose cell body is mis-localized in the molecular layer. In neurodegenerative settings, these are viewed as a marker of the progression of neuronal degeneration. We (1) quantify heterotopias in ET cases vs. controls, (2) compare ET cases to other cerebellar degenerative conditions (spinocerebellar ataxias (SCAs) 1, 2, 3, and 6), (3) compare these SCAs to one another, and (4) assess heterotopia within the context of associated PC loss in each disease...
August 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28782341/genetic-screening-for-spinocerebellar-ataxia-genes-in-a-japanese-single-hospital-cohort
#5
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura
Objective: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort...
August 8, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28774347/microrna-dysregulation-in-polyglutamine-toxicity-of-tata-box%C3%A2-binding-protein-is-mediated-through-stat1-in-mouse-neuronal-cells
#6
Reema Roshan, Ashwani Choudhary, Aksheev Bhambri, Bhawani Bakshi, Tanay Ghosh, Beena Pillai
BACKGROUND: Polyglutamine diseases constitute a class of neurodegenerative disorders associated with expansion of the cytosine-adenine-guanine (CAG) triplet, in protein coding genes. Expansion of a polyglutamine tract in the N-terminal of TBP is the causal mutation in SCA17. Brain sections of patients with spinocerebellar ataxia 17 (SCA17), a type of neurodegenerative disease, have been reported to contain protein aggregates of TATA-binding protein (TBP). It is also implicated in other neurodegenerative diseases like Huntington's disease, since the protein aggregates formed in such diseases also contain TBP...
August 3, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28761930/prevalence-of-spinocerebellar-ataxia-36-in-a-us-population
#7
Juliana M Valera, Tatyana Diaz, Lauren E Petty, Beatriz Quintáns, Zuleima Yáñez, Eric Boerwinkle, Donna Muzny, Dmitry Akhmedov, Rebecca Berdeaux, Maria J Sobrido, Richard Gibbs, James R Lupski, Daniel H Geschwind, Susan Perlman, Jennifer E Below, Brent L Fogel
OBJECTIVE: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. METHODS: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28738819/increased-biological-activity-of-protein-kinase-c-gamma-is-not-required-in-spinocerebellar-ataxia-14
#8
Etsuko Shimobayashi, Josef P Kapfhammer
Spinocerebellar ataxia (SCA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar dysfunction. Currently, 42 SCA types are known, some of which are caused by CAG repeat expansions, but others are caused by point mutations or deletions. Spinocerebellar ataxia type 14 (SCA14) is caused by missense mutations or deletions in the PRKCG gene, coding for protein kinase C gamma (PKCγ). It is still not well understood how these mutations eventually cause Purkinje cell dysfunction and death...
July 24, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#9
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28716278/single-step-blood-direct-pcr-a-robust-and-rapid-method-to-diagnose-triplet-repeat-disorders
#10
Inder Singh, Vishnu Swarup, Sunil Shakya, Vinay Goyal, Mohammed Faruq, Achal Kumar Srivastava
OBJECTIVE: DNA extraction prior to polymerase chain reaction (PCR) amplification in genetic diagnoses of triplet repeat disorders (TRDs) is tedious and labour-intensive and has the limitations of sample contamination with foreign DNA, including that from preceding samples. Therefore, we aimed to develop a rapid, robust, and cost-effective method for expeditious genetic investigation of TRDs from whole blood as a DNA template. METHODS: Peripheral blood samples were collected from 70 clinically suspected patients of progressive ataxia...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28708110/cognitive-changes-in-the-spinocerebellar-ataxias-due-to-expanded-polyglutamine-tracts-a-survey-of-the-literature
#11
REVIEW
Evelyn Lindsay, Elsdon Storey
The dominantly-inherited ataxias characterised by expanded polyglutamine tracts-spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy (DRPLA) and, in part, SCA 8-have all been shown to result in various degrees of cognitive impairment. We survey the literature on the cognitive consequences of each disorder, attempting correlation with their published neuropathological, magnetic resonance imaging (MRI) and clinical features. We suggest several psychometric instruments for assessment of executive function, whose results are unlikely to be confounded by visual, articulatory or upper limb motor difficulties...
July 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28706504/hypertrophic-olivary-degeneration-and-palatal-or-oculopalatal-tremor
#12
REVIEW
Caroline Tilikete, Virginie Desestret
Hypertrophic degeneration of the inferior olive is mainly observed in patients developing palatal tremor (PT) or oculopalatal tremor (OPT). This syndrome manifests as a synchronous tremor of the palate (PT) and/or eyes (OPT) that may also involve other muscles from the branchial arches. It is associated with hypertrophic inferior olivary degeneration that is characterized by enlarged and vacuolated neurons, increased number and size of astrocytes, severe fibrillary gliosis, and demyelination. It appears on MRI as an increased T2/FLAIR signal intensity and enlargement of the inferior olive...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28699106/promoter-variant-alters-expression-of-the-autophagic-becn1-gene-implications-for-clinical-manifestations-of-machado-joseph-disease
#13
Nadiya Kazachkova, Mafalda Raposo, Amanda Ramos, Rafael Montiel, Manuela Lima
Autophagy is especially important in disorders where accumulation of the mutant protein is a hallmark, such as the Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3). We analyzed the promoter of the BECN1 gene, whose overexpression has been reported to exert neuroprotective effects in MJD, with the aim of finding variants that could be associated with expression levels of beclin-1 and could be tested as modifiers of onset and disease severity. A fragment encompassing the BECN1 promoter was sequenced in 95 MJD subjects and 120 controls...
July 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28686858/a-pentanucleotide-atttc-repeat-insertion-in-the-non-coding-region-of-dab1-mapping-to-sca37-causes-spinocerebellar-ataxia
#14
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz, Angela Timóteo, Beatriz Quintáns, Guy A Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J Sobrido, Paula Coutinho, Isabel Silveira
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28680650/stratification-of-disease-progression-in-a-broad-spectrum-of-degenerative-cerebellar-ataxias-with-a-clustering-method-using-mri-based-atrophy-rates-of-brain-structures
#15
Rie Sasaki, Futaba Maki, Daisuke Hara, Shigeaki Tanaka, Yasuhiro Hasegawa
BACKGROUND: The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find sub-groups of patients with homogenous symptom progression in a broad spectrum of degenerative cerebellar ataxias. METHODS: We examined 48 patients including 21 cases of spinocerebellar ataxia (SCA), 17 cases of the cerebellar type of multiple system atrophy (MSA-C), and 10 cases of cortical cerebellar ataxia (CCA)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28677370/neuronal-vacuolation-and-spinocerebellar-degeneration-associated-with-altered-neurotransmission
#16
Aggeliki Giannakopoulou
<i>Inherited neurodegenerative disorders are debilitating diseases that occur across different species, such as the domestic dog (Canis lupus familiaris), and many are caused by mutations in the same genes as corresponding human conditions. In the present study, we report an inherited neurodegenerative condition, termed 'neuronal vacuolation and spinocerebellar degeneration' (NVSD) which affects neonatal or young dogs, mainly Rottweilers, which recently has been linked with the homozygosity for the RAB3GAP1:c...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28676741/the-truncated-c-terminal-fragment-of-mutant-atxn3-disrupts-mitochondria-dynamics-in-spinocerebellar-ataxia-type-3-models
#17
Jung-Yu Hsu, Yu-Ling Jhang, Pei-Hsun Cheng, Yu-Fan Chang, Su-Han Mao, Han-In Yang, Chia-Wei Lin, Chuan-Mu Chen, Shang-Hsun Yang
Spinocerebellar ataxia type 3 (SCA3), known as Machado-Joseph disease, is an autosomal dominant disease caused by an abnormal expansion of polyglutamine in ATXN3 gene, leading to neurodegeneration in SCA3 patients. Similar to other neurodegenerative diseases, the dysfunction of mitochondria is observed to cause neuronal death in SCA3 patients. Based on previous studies, proteolytic cleavage of mutant ATXN3 is found to produce truncated C-terminal fragments in SCA3 models. However, whether these truncated mutant fragments disturb mitochondrial functions and result in pathological death is still unclear...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28667374/human-umbilical-cord-mesenchymal-stem-cells-protect-against-sca3-by-modulating-the-level-of-70-kd-heat-shock-protein
#18
Tan Li, Yi Liu, Linjie Yu, Jiamin Lao, Meijuan Zhang, Jiali Jin, Zhengjuan Lu, Zhuo Liu, Yun Xu
Spinocerebellar ataxia 3 (SCA3), which is a progressive neurodegenerative disease, is currently incurable. Emerging studies have reported that human umbilical cord mesenchymal stem cells (HUC-MSCs) transplantation could be a promising therapeutic strategy for cerebellar ataxias. However, few studies have evaluated the effects of HUC-MSCs on SCA3 transgenic mouse. Thus, we investigated the effects of HUC-MSCs on SCA3 mice and the underlying mechanisms in this study. SCA3 transgenic mice received systematic administration of 2 × 10(6) HUC-MSCs once per week for 12 continuous weeks...
June 30, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28666509/ophthalmological-features-of-machado-joseph-disease
#19
Abdul Qayyum Rana, Danial Tahir Qureshi, Mujtaba Morshed, Zakerabibi M Kachhvi, Mohammad A Rana, Abdul Rehman M Qureshi
Machado-Joseph disease (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and progressive neurodegenerative disorder, as well as the most frequently inherited spinocerebellar ataxia. It has extensive polymorphic features, described through a spectrum of neurological, and especially, ophthalmological manifestations. Besides the deterioration of the oculomotor systems, degeneration predominantly involves the cerebellar, pyramidal, extra-pyramidal, and peripheral motor systems. Few patients express Parkinsonian features as well...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28659860/spinocerebellar-ataxia-type-2-is-associated-with-the-extracellular-loss-of-superoxide-dismutase-but-not-catalase-activity
#20
Dennis Almaguer-Gotay, Luis E Almaguer-Mederos, Raul Aguilera-Rodríguez, Roberto Rodríguez-Labrada, Dany Cuello-Almarales, Annelié Estupiñán-Domínguez, Luis C Velázquez-Pérez, Yanetza González-Zaldívar, Yaimé Vázquez-Mojena
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology. AIM: To assess the influence of superoxide dismutase (SOD3) and catalase (CAT) enzymatic activities on the SCA2 syndrome. METHOD: Clinical, molecular, and electrophysiological variables, as well as SOD3 and CAT enzymatic activities were evaluated in 97 SCA2 patients and in 64 age- and sex-matched control individuals...
2017: Frontiers in Neurology
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