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Spinocerebellar ataxia

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https://www.readbyqxmd.com/read/27908616/spinocerebellar-ataxia-15-a-phenotypic-review-and-expansion
#1
REVIEW
Philip W Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K Wszolek
Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71...
November 10, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27896316/compound-heterozygous-intermediate-mjd-alleles-cause-cerebellar-ataxia-with-sensory-neuropathy
#2
Yuji Takahashi, Masahiro Kanai, Tomoya Taminato, Shoko Watanabe, Chihiro Matsumoto, Toshiyuki Araki, Tomoko Okamoto, Masafumi Ogawa, Miho Murata
Spinocerebellar degeneration (SCD) is a group of disorders characterized by progressive ataxia caused by dysfunction and atrophy of the cerebellum or its projections. Approximately one-third of SCD cases are familial SCD, the majority of which are attributed to CAG triplet repeat expansions including spinocerebellar ataxia (SCA)1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA6, SCA8, SCA12, SCA17, and dentate-rubro-pallido-luysian atrophy (DRPLA). The triplet repeat number of the alleles representing complete penetrance varies among diseases...
February 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27895927/expansion-mosaicism-and-interruption-mechanisms-of-the-cag-repeat-mutation-in-spinocerebellar-ataxia-type-1
#3
REVIEW
Cara Kraus-Perrotta, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington's. As with most polyglutamine expansion diseases, SCA1 follows the rules of genetic anticipation: the larger the expansion, the earlier and more rapid the symptoms. Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27878440/cognitive-dysfunction-in-patients-with-spinocerebellar-ataxia-type-6
#4
Itaru Tamura, Asako Takei, Shinsuke Hamada, Michio Nonaka, Yoshiko Kurosaki, Fumio Moriwaka
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6). We examined 13 patients with genetically confirmed SCA6 and 13 healthy control subjects matched for age, years of education, global cognitive status, and intellectual ability. We administered verbal memory (word recall and word recognition), executive function (digit span, category and letter fluency, Frontal Assessment Battery, and Trail Making Test-A and B), and visuospatial construction (figure copying) tests...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27878228/lithium-carbonate-and-coenzyme-q10-reduce-cell-death-in-a-cell-model-of-machado-joseph-disease
#5
C M Lopes-Ramos, T C Pereira, D B Dogini, R Gilioli, I Lopes-Cendes
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of the polyglutamine domain of the ataxin-3 (ATX3) protein. MJD/SCA3 is the most frequent autosomal dominant ataxia in many countries. The mechanism underlying MJD/SCA3 is thought to be mainly related to protein misfolding and aggregation leading to neuronal dysfunction followed by cell death. Currently, there are no effective treatments for patients with MJD/SCA3. Here, we report on the potential use of lithium carbonate and coenzyme Q10 to reduce cell death caused by the expanded ATX3 in cell culture...
November 21, 2016: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/27866117/distinguishing-spinocerebellar-ataxia-with-pure-cerebellar-manifestation-from-multiple-system-atrophy-msa-c-through-saccade-profiles
#6
Yasuo Terao, Hideki Fukuda, Shin-Ichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yoshikazu Ugawa
OBJECTIVE: Patients with spinocerebellar ataxia with pure cerebellar presentation (SCD) and multiple system atrophy (MSA-C) show similar symptoms at early stages, although cerebellofugal pathology predominates in SCD, and cerebellopetal pathology in MSA-C. We studied whether saccade velocity profiles, which reflect the accelerating and braking functions of the cerebellum, can differentiate these two disorders. METHODS: We recorded visually guided (VGS) and memory guided saccades (MGS) in 29 MSA-C patients, 12 SCD patients, and 92 age-matched normal subjects, and compared their amplitude, peak velocity and duration (accelerating and decelerating phases)...
October 29, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27864267/clinical-behaviour-of-spinocerebellar-ataxia-type-12-and-intermediate-length-abnormal-cag-repeats-in-ppp2r2b
#7
Achal K Srivastava, Amit Takkar, Ajay Garg, Mohammed Faruq
Spinocerebellar ataxia type 12 (SCA12) is a rare neurodegenerative disorder caused by CAG repeat expansion in the PPP2R2B gene. Previously, the causal length of CAG repeats ascribed to SCA12 was more than 51; however, a few reports have also described unusual occurrence of CAG repeat length 36-51 repeats among patients of different geographical population, with atypical clinical association. From our systematic search for SCA12 in a genetic screening programme, we have identified a large number of SCA12 cases...
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27862915/a-de-novo-missense-mutation-in-the-inositol-1-4-5-triphosphate-receptor-type-1-gene-causing-severe-pontine-and-cerebellar-hypoplasia-expanding-the-phenotype-of-itpr1-related-spinocerebellar-ataxia-s
#8
Tessa van Dijk, Peter Barth, Liesbeth Reneman, Bart Appelhof, Frank Baas, Bwee Tien Poll-The
We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. The mutation results in an amino acid substitution of a highly conserved isoleucine by asparagine (p. I2550N) in the transmembrane domain. Mutations and deletions of the ITPR1 gene are associated with several types of autosomal dominant spinocerebellar ataxia, varying in age of onset and severity. Patients have signs of cerebellar ataxia and at most, a mild cerebellar atrophy on MRI...
November 9, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27862279/pet-and-mri-detection-of-early-and-progressive-neurodegeneration-in-spinocerebellar-ataxia-type-36
#9
Pablo Aguiar, Julio Pardo, Manuel Arias, Beatriz Quintáns, Montse Fernández-Prieto, Rocío Martínez-Regueiro, José-Manuel Pumar, Jesús Silva-Rodríguez, Álvaro Ruibal, María-Jesús Sobrido, Julia Cortés
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27859490/genetically-modified-rodent-models-of-sca17
#10
REVIEW
Yiting Cui, Su Yang, Xiao-Jiang Li, Shihua Li
Spinocerebellar ataxia type 17 (SCA17) is a type of autosomal dominant cerebellar ataxia (ADCA) characterized by variable manifestations, including cerebellar ataxia, dementia, and psychiatric symptoms. Since the identification of a CAG repeat expansion in the TATA-box binding protein (TBP) gene in a patient with ataxia in 1999 and then verification of this expansion in patients with SCA17 in 2001, several SCA17 rodent models, including both knock-in and transgenic models in mice and rats, have been established to explore the phenotypic features and pathogenesis of SCA17...
November 18, 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27856682/capturing-schizophrenia-like-prodromal-symptoms-in-a-spinocerebellar-ataxia-17-transgenic-rat
#11
Davide Amato, Fabio Canneva, Huu Phuc Nguyen, Peter Bauer, Olaf Riess, Stephan von Hörsten, Christian P Müller
RATIONALE: The polyglutamine disease spinocerebellar ataxia type 17 (SCA17) is a neurodegenerative disease leading to severe neurological symptoms during development. Additionally, patients affected by SCA17 display psychosis earlier than their motor disorders. OBJECTIVE: Here the putative psychotic phenotype and endophenotype of transgenic SCA17 rats was examined. METHODS: The expression of schizophrenia-like symptoms was evaluated over a longitudinal period before and after the onset of neurological symptoms in SCA17...
November 8, 2016: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/27853421/transient-developmental-purkinje-cell-axonal-torpedoes-in-healthy-and-ataxic-mouse-cerebellum
#12
Lovisa Ljungberg, Daneck Lang-Ouellette, Angela Yang, Sriram Jayabal, Sabrina Quilez, Alanna J Watt
Information is carried out of the cerebellar cortical microcircuit via action potentials propagated along Purkinje cell axons. In several human neurodegenerative diseases, focal axonal swellings on Purkinje cells - known as torpedoes - have been associated with Purkinje cell loss. Interestingly, torpedoes are also reported to appear transiently during development in rat cerebellum. The function of Purkinje cell axonal torpedoes in health as well as in disease is poorly understood. We investigated the properties of developmental torpedoes in the postnatal mouse cerebellum of wild-type and transgenic mice...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27851749/the-machado-joseph-disease-deubiquitinase-ataxin-3-regulates-the-stability-and-apoptotic-function-of-p53
#13
Hongmei Liu, Xiaoling Li, Guozhu Ning, Shu Zhu, Xiaolu Ma, Xiuli Liu, Chunying Liu, Min Huang, Ina Schmitt, Ullrich Wüllner, Yamei Niu, Caixia Guo, Qiang Wang, Tie-Shan Tang
As a deubiquitinating enzyme (DUB), the physiological substrates of ataxin-3 (ATX-3) remain elusive, which limits our understanding of its normal cellular function and that of pathogenic mechanism of spinocerebellar ataxia type 3 (SCA3). Here, we identify p53 to be a novel substrate of ATX-3. ATX-3 binds to native and polyubiquitinated p53 and deubiquitinates and stabilizes p53 by repressing its degradation through the ubiquitin (Ub)-proteasome pathway. ATX-3 deletion destabilizes p53, resulting in deficiency of p53 activity and functions, whereas ectopic expression of ATX-3 induces selective transcription/expression of p53 target genes and promotes p53-dependent apoptosis in both mammalian cells and the central nervous system of zebrafish...
November 2016: PLoS Biology
https://www.readbyqxmd.com/read/27848087/the-initial-symptom-and-motor-progression-in-spinocerebellar-ataxias
#14
Lan Luo, Jie Wang, Raymond Y Lo, Karla P Figueroa, Stefan M Pulst, Pei-Hsin Kuo, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S H Subramony, Tetsuo Ashizawa, Sheng-Han Kuo
The aim of this study is to determine whether the initial symptom associates with motor progression in spinocerebellar ataxias (SCAs). SCAs are clinically heterogeneous and the initial presentation may represent different subtypes of SCA with different motor progression. We studied 317 participants with SCAs1, 2, 3, and 6 from the Clinical Research Consortium for SCAs (CRC-SCA) and repeatedly measured the severity of ataxia for 2 years. SCA patients were divided into gait-onset and non-gait-onset (speech, vision, and hand dexterity) groups based on the initial presentation...
November 15, 2016: Cerebellum
https://www.readbyqxmd.com/read/27847820/autophagy-promoted-the-degradation-of-mutant-atxn3-in-neurally-differentiated-spinocerebellar-ataxia-3-human-induced-pluripotent-stem-cells
#15
Zhanhui Ou, Min Luo, Xiaohua Niu, Yuchang Chen, Yingjun Xie, Wenyin He, Bing Song, Yexing Xian, Di Fan, Shuming OuYang, Xiaofang Sun
Spinocerebellar ataxia-3 (SCA3) is the most common dominant inherited ataxia worldwide and is caused by an unstable CAG trinucleotide expansion mutation within the ATXN3 gene, resulting in an expanded polyglutamine tract within the ATXN3 protein. Many in vitro studies have examined the role of autophagy in neurodegenerative disorders, including SCA3, using transfection models with expression of pathogenic proteins in normal cells. In the current study, we aimed to develop an improved model for studying SCA3 in vitro using patient-derived cells...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27835876/azadiradione-ameliorates-polyglutamine-expansion-disease-in-drosophila-by-potentiating-dna-binding-activity-of-heat-shock-factor-1
#16
Vinod K Nelson, Asif Ali, Naibedya Dutta, Suvranil Ghosh, Manas Jana, Arnab Ganguli, Andrei Komarov, Soumyadip Paul, Vibha Dwivedi, Subhrangsu Chatterjee, Nihar R Jana, Subhash C Lakhotia, Gopal Chakrabarti, Anup K Misra, Subhash C Mandal, Mahadeb Pal
Aggregation of proteins with the expansion of polyglutamine tracts in the brain underlies progressive genetic neurodegenerative diseases (NDs) like Huntington's disease and spinocerebellar ataxias (SCA). An insensitive cellular proteotoxic stress response to non-native protein oligomers is common in such conditions. Indeed, upregulation of heat shock factor 1 (HSF1) function and its target protein chaperone expression has shown promising results in animal models of NDs. Using an HSF1 sensitive cell based reporter screening, we have isolated azadiradione (AZD) from the methanolic extract of seeds of Azadirachta indica, a plant known for its multifarious medicinal properties...
October 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27830516/natural-history-of-spinocerebellar-ataxia-type-31-a-4-year-prospective-study
#17
Katsuya Nakamura, Kunihiro Yoshida, Akira Matsushima, Yusaku Shimizu, Shunichi Sato, Hiroyuki Yahikozawa, Shinji Ohara, Masanobu Yazawa, Masao Ushiyama, Mitsuto Sato, Hiroshi Morita, Atsushi Inoue, Shu-Ichi Ikeda
Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI)...
November 9, 2016: Cerebellum
https://www.readbyqxmd.com/read/27806289/vulnerability-of-purkinje-cells-generated-from-spinocerebellar-ataxia-type-6-patient-derived-ipscs
#18
Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Muguruma
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, α1A subunit of P/Q-type calcium channel. However, the pathogenic mechanism and effective therapeutic treatments are still unknown. Here, we have succeeded in generating differentiated Purkinje cells that carry patient genes by combining disease-specific iPSCs and self-organizing culture technologies...
November 1, 2016: Cell Reports
https://www.readbyqxmd.com/read/27802273/fusion-of-human-fetal-mesenchymal-stem-cells-with-degenerating-cerebellar-neurons-in-spinocerebellar-ataxia-type-1-model-mice
#19
Fathul Huda, Yiping Fan, Mamiko Suzuki, Ayumu Konno, Yasunori Matsuzaki, Nobutaka Takahashi, Jerry K Y Chan, Hirokazu Hirai
Mesenchymal stem cells (MSCs) migrate to damaged tissues, where they participate in tissue repair. Human fetal MSCs (hfMSCs), compared with adult MSCs, have higher proliferation rates, a greater differentiation capacity and longer telomeres with reduced senescence. Therefore, transplantation of quality controlled hfMSCs is a promising therapeutic intervention. Previous studies have shown that intravenous or intracortical injections of MSCs result in the emergence of binucleated cerebellar Purkinje cells (PCs) containing an MSC-derived marker protein in mice, thus suggesting a fusion event...
2016: PloS One
https://www.readbyqxmd.com/read/27791392/impact-of-ataxin-2-knock-out-on-circadian-locomotor-behavior-and-per-immunoreaction-in-the-scn-of-mice
#20
Martina Pfeffer, Suzana Gispert, Georg Auburger, Helmut Wicht, Horst-Werner Korf
In Drosophila melanogaster, Ataxin-2 is a crucial activator of Period and is involved in the control of circadian rhythms. However, in mammals the function of Ataxin-2 is unknown despite its involvement in the inherited neurogenerative disease Spinocerebellar Ataxia type 2 in humans. Therefore, we analyzed locomotor behavior of Atxn2-deficient mice and their WT littermates under entrained- and free-running conditions as well as after experimental jet lag. Furthermore, we compared the PER1 and PER2 immunoreaction (IR) in the SCN...
October 28, 2016: Chronobiology International
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