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Journal articles on the topic 'Spinocerebellar Ataxia Type 1'

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Published: 4 June 2021
Last updated: 13 February 2022

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1

Zoghbi, Huda Y., and Harry T. Orr. "Spinocerebellar ataxia type 1." Seminars in Cell Biology 6, no. 1 (1995): 29–35. http://dx.doi.org/10.1016/1043-4682(95)90012-8.

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2

Cummings, Christopher J., Harry T. Orr, and Huda Y. Zoghbi. "Progress in pathogenesis studies of spinocerebellar ataxia type 1." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (1999): 1079–81. http://dx.doi.org/10.1098/rstb.1999.0462.

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Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited disorder characterized by progressive loss of coordination, motor impairment and the degeneration of cerebellar Purkinje cells, spinocerebellar tracts and brainstem nuclei. Many dominantly inherited neurodegenerative diseases share the mutational basis of SCA1: the expansion of a translated CAG repeat coding for glutamine. Mice lacking ataxin-1 display learning deficits and altered hippocampal synaptic plasticity but none of the abnormalities seen in human SCA1; mice expressing ataxin-1 with an expanded CAG tract (82 glutamine residues), however, develop Purkinje cell pathology and ataxia. These results suggest that mutant ataxin-1 gains a novel function that leads to neuronal degeneration. This novel function might involve aberrant interaction(s) with cell-specific protein(s), which in turn might explain the selective neuronal pathology. Mutant ataxin-1 interacts preferentially with a leucine-rich acidic nuclear protein that is abundantly expressed in cerebellar Purkinje cells and other brain regions affected in SCA1. Immunolocalization studies in affected neurons of patients and SCA1 transgenic mice showed that mutant ataxin-1 localizes to a single, ubiquitin-positive nuclear inclusion (NI) that alters the distribution of the proteasome and certain chaperones. Further analysis of NIs in transfected HeLa cells established that the proteasome and chaperone proteins co-localize with ataxin-1 aggregates. Moreover, overexpression of the chaperone HDJ-2/HSDJ in HeLa cells decreased ataxin-1 aggregation, suggesting that protein misfolding might underlie NI formation. To assess the importance of the nuclear localization of ataxin-1 and its role in SCA1 pathogenesis, two lines of transgenic mice were generated. In the first line, the nuclear localization signal was mutated so that full-length mutant ataxin-1 would remain in the cytoplasm; mice from this line did not develop any ataxia or pathology. This suggests that mutant ataxin-1 is pathogenic only in the nucleus. To assess the role of the aggregates, transgenic mice were generated with mutant ataxin-1 without the self-association domain (SAD) essential for aggregate formation. These mice developed ataxia and Purkinje cell abnormalities similar to those seen in SCA1 transgenic mice carrying full-length mutant ataxin-1, but lacked NIs. The nuclear milieu is thus a critical factor in SCA1 pathogenesis, but large NIs are not needed to initiate pathogenesis. They might instead be downstream of the primary pathogenic steps. Given the accumulated evidence, we propose the following model for SCA1 pathogenesis: expansion of the polyglutamine tract alters the conformation of ataxin-1, causing it to misfold. This in turn leads to aberrant protein interactions. Cell specificity is determined by the cell-specific proteins interacting with ataxin-1. Submicroscopic protein aggregation might occur because of protein misfolding, and those aggregates become detectable as NIs as the disease advances. Proteasome redistribution to the NI might contribute to disease progression by disturbing proteolysis and subsequent vital cellular functions.
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3

Lebranchu, Pierre, Guylène Le Meur, Armelle Magot, et al. "Maculopathy and Spinocerebellar Ataxia Type 1." Journal of Neuro-Ophthalmology 33, no. 3 (2013): 225–31. http://dx.doi.org/10.1097/wno.0b013e31828d4add.

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4

Zhou, Yong-Xing, Wen-Hui Qiao, Wei-Hong Gu, et al. "Spinocerebellar Ataxia Type 1 in China." Archives of Neurology 58, no. 5 (2001): 789. http://dx.doi.org/10.1001/archneur.58.5.789.

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5

Illarioshkin, Sergei N., Pyotr A. Slominsky, Igor V. Ovchinnikov, et al. "Spinocerebellar ataxia type 1 in Russia." Journal of Neurology 243, no. 7 (1996): 506–10. http://dx.doi.org/10.1007/bf00886871.

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6

Khwaja, Geeta Anjum, Abhilekh Srivastava, Vijay Vishwanath Ghuge, and Neera Chaudhry. "Writer’s cramp in spinocerebellar ataxia Type 1." Journal of Neurosciences in Rural Practice 7, no. 04 (2016): 584–86. http://dx.doi.org/10.4103/0976-3147.186980.

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ABSTRACTDystonia can be encountered in a small subset of patients with spinocerebellar ataxia (SCA), but task specific dystonia is extremely rare. We report a case of a 48-year-old male with confirmed SCA Type 1 (SCA1) with mild progressive cerebellar ataxia and a prominent and disabling Writer’s cramp. This case highlights the ever-expanding phenotypic heterogeneity of the SCA’s in general and SCA1 in particular.
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7

Suart, Celeste E., Alma M. Perez, Ismael Al-Ramahi, Tamara Maiuri, Juan Botas, and Ray Truant. "Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase." Human Molecular Genetics 30, no. 8 (2021): 706–15. http://dx.doi.org/10.1093/hmg/ddab074.

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Abstract Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the ataxin-1 protein. Recent genetic correlational studies have implicated DNA damage repair pathways in modifying the age at onset of disease symptoms in SCA1 and Huntington’s Disease, another polyglutamine expansion disease. We demonstrate that both endogenous and transfected ataxin-1 localizes to sites of DNA damage, which is impaired by polyglutamine expansion. This response is dependent on ataxia-telangiectasia mutated (ATM) kinase activity. Further, we characterize an ATM phosphorylation motif within ataxin-1 at serine 188. We show reduction of the Drosophila ATM homolog levels in a ATXN1[82Q] Drosophila model through shRNA or genetic cross ameliorates motor symptoms. These findings offer a possible explanation as to why DNA repair was implicated in SCA1 pathogenesis by past studies. The similarities between the ataxin-1 and the huntingtin responses to DNA damage provide further support for a shared pathogenic mechanism for polyglutamine expansion diseases.
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8

Kostic, Svetlana, Dusko Vranjes, Velimir Dedic, and Jagoda Potic. "P124 Spinocerebellar ataxia type 1 – case report." Clinical Neurophysiology 119 (May 2008): S102—S103. http://dx.doi.org/10.1016/s1388-2457(08)60395-8.

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9

Namekawa, Michito, Yoshihisa Takiyama, Yoshihito Ando, et al. "Choreiform movements in spinocerebellar ataxia type 1." Journal of the Neurological Sciences 187, no. 1-2 (2001): 103–6. http://dx.doi.org/10.1016/s0022-510x(01)00527-5.

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10

Bürk, K., S. Bösch, C. Globas, et al. "Executive Dysfunction in Spinocerebellar Ataxia Type 1." European Neurology 46, no. 1 (2001): 43–48. http://dx.doi.org/10.1159/000050755.

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11

Duyckaerts, C., A. Dürr, G. Cancel, and A. Brice. "Nuclear inclusions in spinocerebellar ataxia type 1." Acta Neuropathologica 97, no. 2 (1999): 201–7. http://dx.doi.org/10.1007/s004010050975.

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12

Tejwani, Leon, and Janghoo Lim. "Pathogenic mechanisms underlying spinocerebellar ataxia type 1." Cellular and Molecular Life Sciences 77, no. 20 (2020): 4015–29. http://dx.doi.org/10.1007/s00018-020-03520-z.

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13

Volovikov, E. A., A. V. Davidenko, and M. A. Lagarkova. "Molecular Mechanisms of Spinocerebellar Ataxia Type 1." Russian Journal of Genetics 56, no. 2 (2020): 129–41. http://dx.doi.org/10.1134/s102279542002012x.

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14

Fukazawa, T., H. Sasaki, S. Kikuchi, K. Hamada, T. Hamada, and K. Tashiro. "Spinocerebellar ataxia type 1 and familial spontaneous pneumothorax." Neurology 49, no. 5 (1997): 1460–62. http://dx.doi.org/10.1212/wnl.49.5.1460.

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We report two siblings with spinocerebellar ataxia type 1 (SCA1) who experienced frequent episodes of spontaneous pneumothorax. Radiologic findings indicated underlying degenerative changes in the lungs. This suggests a possible pathophysiologic relationship between SCA1 and familial occurrence of spontaneous pneumothorax.
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15

McEwan, I. J. "Structural and functional alterations in the androgen receptor in spinal bulbar muscular atrophy." Biochemical Society Transactions 29, no. 2 (2001): 222–27. http://dx.doi.org/10.1042/bst0290222.

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The androgen receptor is a member of the nuclear receptor superfamily, and regulates gene expression in response to the steroid hormones testosterone and dihydrotestosterone. Mutations in the receptor have been correlated with a diverse range of clinical conditions, including androgen insensitivity, prostate cancer and spinal bulbar muscular atrophy, a neuromuscular degenerative condition. The latter is caused by expansion of a polyglutamine repeat within the N-terminal domain of the receptor. Thus the androgen receptor is one of a growing number of neurodegenerative disease-associated proteins, including huntingtin (Huntington's disease), ataxin-1 (spinocerebellar ataxia, type 1) and ataxin-3 (spinocerebellar ataxia, type 3), which show expansion of CAG triplet repeats. Although widely studied, the functions of huntingtin, ataxin-1 and ataxin-3 remain unknown. The androgen receptor, which has a well-recognized function in gene regulation, provides a unique opportunity to investigate the functional significance of poly(amino acid) repeats in normal and disease states.
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16

Zesiewicz, Theresa A., George Wilmot, Sheng-Han Kuo, et al. "Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia." Neurology 90, no. 10 (2018): 464–71. http://dx.doi.org/10.1212/wnl.0000000000005055.

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ObjectiveTo systematically review evidence regarding ataxia treatment.MethodsA comprehensive systematic review was performed according to American Academy of Neurology methodology.ConclusionsFor patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients with SCA type 3, valproic acid 1,200 mg/d possibly improves ataxia at 12 weeks. For patients with spinocerebellar degeneration, thyrotropin-releasing hormone possibly improves some ataxia signs over 10 to 14 days (1 Class II study). For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia over 48 weeks (1 Class I study). For patients with Friedreich ataxia, deferiprone possibly worsens ataxia signs over 6 months (1 Class II study). Data are insufficient to support or refute the use of numerous agents. For nonpharmacologic options, in patients with degenerative ataxias, 4-week inpatient rehabilitation probably improves ataxia and function (1 Class I study); transcranial magnetic stimulation possibly improves cerebellar motor signs at 21 days (1 Class II study). For patients with multiple sclerosis–associated ataxia, the addition of pressure splints possibly has no additional benefit compared with neuromuscular rehabilitation alone (1 Class II study). Data are insufficient to support or refute use of stochastic whole-body vibration therapy (1 Class III study).
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17

Scott, Patrick, Adila Al Kindi, Amira Al Fahdi, et al. "Spinocerebellar ataxia with axonal neuropathy type 1 revisited." Journal of Clinical Neuroscience 67 (September 2019): 139–44. http://dx.doi.org/10.1016/j.jocn.2019.05.060.

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18

Dang, Dien, and David Cunnington. "Excessive daytime somnolence in spinocerebellar ataxia type 1." Journal of the Neurological Sciences 290, no. 1-2 (2010): 146–47. http://dx.doi.org/10.1016/j.jns.2009.12.007.

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19

Singhal, Sumeet, Vamsi Gontu, Prajendra Choudhary, Dorothee Auer, and Nin Bajaj. "Spinocerebellar ataxia type 1 mimicking stiff person syndrome." Movement Disorders 24, no. 14 (2009): 2158–60. http://dx.doi.org/10.1002/mds.22521.

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20

Thurtell, Matthew J. "Rod-Cone Dystrophy in Spinocerebellar Ataxia Type 1." Archives of Ophthalmology 129, no. 7 (2011): 956. http://dx.doi.org/10.1001/archophthalmol.2011.172.

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21

Saito, Y., K. Matsumura, S. Shimizu, et al. "Pigmentary macular dystrophy in spinocerebellar ataxia type 1." Journal of Neurology, Neurosurgery & Psychiatry 77, no. 11 (2006): 1293. http://dx.doi.org/10.1136/jnnp.2006.092676.

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22

Pedroso, Jose Luiz, and Orlando G. P. Barsottini. "Spinal cord atrophy in spinocerebellar ataxia type 1." Arquivos de Neuro-Psiquiatria 71, no. 12 (2013): 977. http://dx.doi.org/10.1590/0004-282x20130187.

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23

Martins, Carlos Roberto, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, et al. "Spinal Cord Damage in Spinocerebellar Ataxia Type 1." Cerebellum 16, no. 4 (2017): 792–96. http://dx.doi.org/10.1007/s12311-017-0854-9.

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24

Ginestroni, A., R. Della Nave, C. Tessa, et al. "Brain structural damage in spinocerebellar ataxia type 1." Journal of Neurology 255, no. 8 (2008): 1153–58. http://dx.doi.org/10.1007/s00415-008-0860-4.

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25

Kang, Seongman, and Sunghoi Hong. "Molecular pathogenesis of spinocerebellar ataxia type 1 disease." Molecules and Cells 27, no. 6 (2009): 621–27. http://dx.doi.org/10.1007/s10059-009-0095-y.

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26

Stevanin, G., A. Dürr, G. David, et al. "Clinical and molecular features of spinocerebellar ataxia type 6." Neurology 49, no. 5 (1997): 1243–46. http://dx.doi.org/10.1212/wnl.49.5.1243.

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The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and found that SCA6 is a minor locus in our series (2%) and is rare in France (1%). Furthermore, we did not detect the SCA6 mutation on 146 sporadic cases with isolated cerebellar ataxia or olivopontocerebellar atrophy. The normal and expanded alleles ranged from 4 to 15 and 22 to 28 CAG repeats, respectively, and age at onset was correlated to CAG repeat length (r = -0.87). In contrast with other SCA, the expanded allele was stable during transmission. Clinically, SCA6 patients (n = 12) presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67). MRI showed extensive cerebellar atrophy but not of the brainstem or cerebral cortex.
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27

Teive, Hélio A. G. "Spinocerebellar ataxias." Arquivos de Neuro-Psiquiatria 67, no. 4 (2009): 1133–42. http://dx.doi.org/10.1590/s0004-282x2009000600035.

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Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE: To carry out a clinical and genetic review of the main types of SCA. METHOD: The review was based on a search of the PUBMED and OMIM databases. RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. CONCLUSIONS: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.
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28

Verbeek, Dineke S. "Spinocerebellar Ataxia Type 23: A Genetic Update." Cerebellum 8, no. 2 (2008): 104–7. http://dx.doi.org/10.1007/s12311-008-0085-1.

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29

Koefoed, P., J. E. Nielsen, L. Hasholt, P. K. A. Jensen, K. Fenger, and S. A. Sørensen. "The molecular diagnosis of spinocerebellar ataxia type 1 in patients with ataxia." European Journal of Neurology 4, no. 6 (1997): 586–92. http://dx.doi.org/10.1111/j.1468-1331.1997.tb00410.x.

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30

Black, Eric. "Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient." Case Reports in Psychiatry 2019 (February 11, 2019): 1–3. http://dx.doi.org/10.1155/2019/9186797.

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Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011). SCA is hereditary, progressive, and degenerative. SCA1 symptoms initially include coordination problems and ataxia. SCA1 can also include speech and swallowing difficulties, spasticity, ophthalmoplegia, cognitive difficulties, and even sensory neuropathy, dystonia, atrophy, and fasciculations. Literature has established that depressive symptoms can be exhibited with spinocerebellar ataxia patients regardless of type (T. Schmitz-Hübsch, 2011). While a higher risk for depression occurs with more severe SCA disease, successful treatment to mitigate symptoms has been documented (N. Okamoto, M. Ogawa, Y. Murata, et al., 2010). In this case a SCA1 patient with advanced neurological disease was enrolled in a psychiatric intensive outpatient (IOP) treatment program in the midwestern United States to address his comorbid depressive symptoms. This treatment option allowed a less restrictive environment while providing a more structured therapeutic setting and social support for the patient, much more so than that which is typically offered in a traditional outpatient setting. Case Report. A patient with relatively advanced SCA1 successfully participated in a psychiatric IOP program or depressive symptoms and benefitted from the program’s structure and additional psychosocial support. Conclusion. Awareness among physicians, particularly psychiatrists and neurologists, regarding IOP programs as a treatment option for comorbid depression in the clinical setting of progressive SCA or other neurological conditions can be beneficial to patients requiring an increased level of psychiatric treatment.
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31

Cvetanovic, Marija, Rupinder K. Kular, and Puneet Opal. "LANP mediates neuritic pathology in Spinocerebellar ataxia type 1." Neurobiology of Disease 48, no. 3 (2012): 526–32. http://dx.doi.org/10.1016/j.nbd.2012.07.024.

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32

Shrimpton, A. E., R. Davidson, N. MacDonald, and D. J. Brock. "Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1." Journal of Medical Genetics 30, no. 7 (1993): 616–17. http://dx.doi.org/10.1136/jmg.30.7.616.

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33

SHIOJIRI, T., T. TSUNEMI, T. MATSUNAGA, et al. "Vocal cord abductor paralysis in spinocerebellar ataxia type 1." Journal of Neurology, Neurosurgery & Psychiatry 67, no. 5 (1999): 695–96. http://dx.doi.org/10.1136/jnnp.67.5.695.

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34

Shiwaku, Hiroki, Saburo Yagishita, Yoshinobu Eishi, and Hitoshi Okazawa. "Bergmann glia are reduced in spinocerebellar ataxia type 1." NeuroReport 24, no. 11 (2013): 620–25. http://dx.doi.org/10.1097/wnr.0b013e32836347b7.

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35

Mähler, Anja, Jochen Steiniger, Matthias Endres, Friedemann Paul, Michael Boschmann, and Sarah Doss. "Increased Catabolic State in Spinocerebellar Ataxia Type 1 Patients." Cerebellum 13, no. 4 (2014): 440–46. http://dx.doi.org/10.1007/s12311-014-0555-6.

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36

Mikhail, Mirriam, and Netan Choudhry. "Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy." American Journal of Ophthalmic Clinical Trials 4 (July 20, 2021): 2. http://dx.doi.org/10.25259/ajoct_5_2020.

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Objectives: The objective of the study was to investigate and report the multimodal ocular imaging findings associated with spinocerebellar ataxia type 1 (SCA 1) associated maculopathy. Methods: A full ophthalmologic assessment was completed in a 70-year-old male with confirmed SCA1 and noted progressive bilateral vision loss. Investigations included dilated fundus examination, full-field electroretinography, and swept-source optical coherence tomography (OCT). Results: On neurologic and ophthalmologic examination, he was found to have hypermetric saccades, horizontal nystagmus, and reduced color vision bilaterally. His best-corrected visual acuity was confirmed to be 20/80 OD and 20/100 OS at the time of consultation. Initial fundus photography was most notable for bilateral hypopigmentation of the fovea. Corresponding OCT imaging demonstrated an attenuation of the ellipsoid zone, in keeping with photoreceptor loss. Conclusion: The ocular imaging results suggest that the vision loss in the presented case occurred in the context of pigmentary macular dystrophy secondary to photoreceptor dysfunction and retinal pigment epithelial degeneration. This association offers an explanation with respect to the progressive vision loss, but further analyses would be required to determine the temporal correlation of clinical symptoms with imaging abnormalities. These findings suggest that SCA1 be considered as a potential cause for vision impairment, with possible benefits of visual assessment at the time of diagnosis.
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Isono, Chiharu, Makito Hirano, Hikaru Sakamoto, Shuichi Ueno, Susumu Kusunoki, and Yusaku Nakamura. "Progression of Dysphagia in Spinocerebellar Ataxia Type 6." Dysphagia 32, no. 3 (2017): 420–26. http://dx.doi.org/10.1007/s00455-016-9771-1.

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38

Elsaey, Mohamed A., Kazuhiko Namikawa, and Reinhard W. Köster. "Genetic Modeling of the Neurodegenerative Disease Spinocerebellar Ataxia Type 1 in Zebrafish." International Journal of Molecular Sciences 22, no. 14 (2021): 7351. http://dx.doi.org/10.3390/ijms22147351.

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Dominant spinocerebellar ataxias (SCAs) are progredient neurodegenerative diseases commonly affecting the survival of Purkinje cells (PCs) in the human cerebellum. Spinocerebellar ataxia type 1 (SCA1) is caused by the mutated ataxin1 (Atx1) gene product, in which a polyglutamine stretch encoded by CAG repeats is extended in affected SCA1 patients. As a monogenetic disease with the Atx1-polyQ protein exerting a gain of function, SCA1 can be genetically modelled in animals by cell type-specific overexpression. We have established a transgenic PC-specific SCA1 model in zebrafish coexpressing the fluorescent reporter protein mScarlet together with either human wild type Atx1[30Q] as control or SCA1 patient-derived Atx1[82Q]. SCA1 zebrafish display an age-dependent PC degeneration starting at larval stages around six weeks postfertilization, which continuously progresses during further juvenile and young adult stages. Interestingly, PC degeneration is observed more severely in rostral than in caudal regions of the PC population. Although such a neuropathology resulted in no gross locomotor control deficits, SCA1-fish with advanced PC loss display a reduced exploratory behaviour. In vivo imaging in this SCA1 model may help to better understand such patterned PC death known from PC neurodegeneration diseases, to elucidate disease mechanisms and to provide access to neuroprotective compound characterization in vivo.
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39

Tsai, Yun-An, Ren-Shyan Liu, Jiing-Feng Lirng, et al. "Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study." Cell Transplantation 26, no. 3 (2017): 503–12. http://dx.doi.org/10.3727/096368916x694373.

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Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases. We hereby report the results of a phase I/IIa clinical study conducted in Taiwan to primarily evaluate the safety, tolerability, and, secondarily, the possible efficacy of intravenous administration of allogeneic adipose tissue-derived MSCs from healthy donors. Six patients with spinocerebellar ataxia type 3 and one with multiple system atrophy-cerebellar type were included in this open-label study with intravenous administration of 10 6 cells/kg body weight. The subjects were closely monitored for 1 year for safety (vital signs, complete blood counts, serum biochemical profiles, and urinalysis) and possible efficacy (scale for assessment and rating of ataxia and sensory organization testing scores, metabolite ratios on the brain magnetic resonance spectroscopy, and brain glucose metabolism of 18-fluorodeoxyglucose using positron emission tomography). No adverse events related to the injection of MSCs during the 1-year follow-up were observed. The intravenous administration of allogeneic MSCs seemed well tolerated. Upon study completion, all patients wished to continue treatment with the allogeneic MSCs. We conclude that allogeneic MSCs given by intravenous injection seems to be safe and tolerable in patients with spinocerebellar ataxia type 3, thus supporting advancement of the clinical development of allogeneic MSCs for the treatment of spinocerebellar ataxias (SCAs) in a randomized, double-blind, placebo-controlled phase II trials.
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40

Aizawa, Carolina Yuri P., Jose Luiz Pedroso, Pedro Braga-Neto, Marilia Rezende Callegari, and Orlando Graziani Povoas Barsottini. "Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function." Arquivos de Neuro-Psiquiatria 71, no. 8 (2013): 508–11. http://dx.doi.org/10.1590/0004-282x20130094.

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OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were used to evaluate disease severity. RESULTS: Most patients showed significant risk of falls. The balance scores were significantly different in spinocerebellar ataxia types. A significant positive correlation between balance and disease severity was found. CONCLUSION: Patients with spinocerebellar ataxia have important balance impairment and risk of falls that influence the ability to function such as self-care, transfers, and locomotion. Furthermore, the more severe ataxia is, the more compromised are postural balance, risk of falls, and ability to function.
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41

Keiser, Megan S., Jeffrey H. Kordower, Pedro Gonzalez-Alegre, and Beverly L. Davidson. "Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy." Brain 138, no. 12 (2015): 3555–66. http://dx.doi.org/10.1093/brain/awv292.

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42

Martins, Carlos R., Alberto R. M. Martinez, Anelyssa D'Abreu, Iscia Lopes-Cendes, and Marcondes C. França. "Fatigue is frequent and severe in spinocerebellar ataxia type 1." Parkinsonism & Related Disorders 21, no. 7 (2015): 821–22. http://dx.doi.org/10.1016/j.parkreldis.2015.04.015.

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43

Keiser, Megan S., James C. Geoghegan, Ryan L. Boudreau, Kim A. Lennox, and Beverly L. Davidson. "RNAi or overexpression: Alternative therapies for Spinocerebellar Ataxia Type 1." Neurobiology of Disease 56 (August 2013): 6–13. http://dx.doi.org/10.1016/j.nbd.2013.04.003.

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44

Sasaki, H., T. Fukazawa, T. Yanagihara, et al. "Clinical features and natural history of spinocerebellar ataxia type 1." Acta Neurologica Scandinavica 93, no. 1 (2009): 64–71. http://dx.doi.org/10.1111/j.1600-0404.1996.tb00173.x.

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45

Wu, Yih-Ru, Guey-Jen Lee-Chen, Anthony E. Lang, Chiung-Mei Chen, Hsuan-Yuan Lin, and Sien-Tsong Chen. "Dystonia as a presenting sign of spinocerebellar ataxia type 1." Movement Disorders 19, no. 5 (2004): 586–87. http://dx.doi.org/10.1002/mds.10708.

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46

Edamakanti, Chandrakanth Reddy, Jeehaeh Do, Alessandro Didonna, Marco Martina, and Puneet Opal. "Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1." Journal of Clinical Investigation 128, no. 6 (2018): 2252–65. http://dx.doi.org/10.1172/jci96765.

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47

Doss, Sarah, Alexander U. Brandt, Timm Oberwahrenbrock, Matthias Endres, Friedemann Paul, and Jan Leo Rinnenthal. "Metabolic Evidence for Cerebral Neurodegeneration in Spinocerebellar Ataxia Type 1." Cerebellum 13, no. 2 (2013): 199–206. http://dx.doi.org/10.1007/s12311-013-0527-2.

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48

Bürk, K., C. Globas, S. Bösch, et al. "Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3." Journal of Neurology 250, no. 2 (2003): 207–11. http://dx.doi.org/10.1007/s00415-003-0976-5.

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49

Girardet, A., C. Fernandez, C. Coubes, S. Hamamah, H. Dechaud, and M. Claustres. "P▪5 PGD for spinocerebellar ataxia type I." Reproductive BioMedicine Online 10 (January 2005): 34. http://dx.doi.org/10.1016/s1472-6483(11)60327-1.

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50

Mori, Masatada, Yoshiki Adachi, Masayoshi Kusumi, and Kenji Nakashima. "Spinocerebellar ataxia type 6: founder effect in Western Japan." Journal of the Neurological Sciences 185, no. 1 (2001): 43–47. http://dx.doi.org/10.1016/s0022-510x(01)00453-1.

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