| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Olga S Belozor, Alex Vasilev, Alexandra G Mileiko, Lyudmila D Mosina, Ilya G Mikhailov, Darius A Ox, Elizaveta B Boitsova, Andrey N Shuvaev, Anja G Teschemacher, Sergey Kasparov, Anton N Shuvae. Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 174. 2024-04-04. PMID:38574621. |
spinocerebellar ataxia type 1 (sca1) is a debilitating neurodegenerative disorder of the cerebellum and brainstem. |
2024-04-04 |
2024-04-07 |
mouse |
| Chi-Ying R Lin, Sheng-Han Kuo, Puneet Opa. Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias. Current neurology and neuroscience reports. 2024-01-25. PMID:38270820. |
spinocerebellar ataxias (scas) are autosomal dominant degenerative syndromes that present with ataxia and brain stem abnormalities. |
2024-01-25 |
2024-01-27 |
Not clear |
| Logan M Morrison, Haoran Huang, Hillary P Handler, Min Fu, David D Bushart, Samuel S Pappas, Harry T Orr, Vikram G Shakkotta. Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1. bioRxiv : the preprint server for biology. 2023-11-14. PMID:37961407. |
one of the characteristic areas of brainstem degeneration across multiple spinocerebellar ataxias (scas) is the inferior olive (io), a medullary nucleus that plays a key role in motor learning. |
2023-11-14 |
2023-11-20 |
mouse |
| Stephanie Efthymiou, Luiz E Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz F Vasconcellos, Salmo Raskin, Varunvenkat M Srinivasan, Alistair T Pagnamenta, Yaramanchanahalli B Arun, Uddhava V Kinhal, Vykuntaraju K Gowda, Helio A G Teive, Henry Houlde. Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. Annals of clinical and translational neurology. 2023-08-09. PMID:37553803. |
bi-allelic variants in peroxiredoxin 3 (prdx3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. |
2023-08-09 |
2023-08-16 |
Not clear |
| Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, Alberto L Rosa, Brent L Foge. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report. Journal of medical case reports. vol 17. issue 1. 2023-04-26. PMID:37101238. |
hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination. |
2023-04-26 |
2023-08-14 |
Not clear |
| Sophie Tezenas du Montcel, Emilien Petit, Titilayo Olubajo, Jennifer Faber, Pauline Lallemant-Dudek, Khalaf Bushara, Susan Perlman, Sub H Subramony, David Morgan, Brianna Jackman, Henry Lauris Paulson, Gülin Öz, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizaw. Baseline Clinical and Blood Biomarker in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023-02-16. PMID:36797067. |
in spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations or biomarkers modifications. |
2023-02-16 |
2023-08-14 |
Not clear |
| Heike Jacobi, Martin Andermann, Jennifer Faber, Felicitas Baumann, André Rup. Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3. Cerebellum (London, England). 2023-01-30. PMID:36715818. |
brainstem degeneration is a prominent feature of spinocerebellar ataxia type 3 (sca3), involving structures that execute binaural synchronization with microsecond precision. |
2023-01-30 |
2023-08-14 |
Not clear |
| Kimberly Luttik, Victor Olmos, Ashley Owens, Aryaan Khan, Joy Yun, Terri Driessen, Janghoo Li. Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex. Cells. vol 11. issue 17. 2022-09-09. PMID:36078042. |
the neurodegenerative disease spinocerebellar ataxia type 1 (sca1) is known to lead to the progressive degeneration of specific neuronal populations, including cerebellar purkinje cells (pcs), brainstem cranial nerve nuclei and inferior olive nuclei, and spinocerebellar tracts. |
2022-09-09 |
2023-08-14 |
mouse |
| Timothy R Koscik, Lauren Sloat, Ellen van der Plas, James M Joers, Dinesh K Deelchand, Christophe Lenglet, Gülin Öz, Peggy C Nopoulo. Brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1. Brain communications. vol 2. issue 2. 2021-12-07. PMID:33409488. |
brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1. |
2021-12-07 |
2023-08-13 |
Not clear |
| Won-Seok Lee, Laura Lavery, Maxime W C Rousseaux, Eric B Rutledge, Youjin Jang, Ying-Wooi Wan, Sih-Rong Wu, Wonho Kim, Ismael Al-Ramahi, Smruti Rath, Carolyn J Adamski, Vitaliy V Bondar, Ambika Tewari, Shirin Soleimani, Samantha Mota, Hari K Yalamanchili, Harry T Orr, Zhandong Liu, Juan Botas, Huda Y Zoghb. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. The EMBO journal. vol 40. issue 7. 2021-10-22. PMID:33709453. |
in spinocerebellar ataxia type 1 (sca1), accumulation of polyglutamine-expanded ataxin-1 (atxn1) causes selective degeneration of cerebellar and brainstem neurons. |
2021-10-22 |
2023-08-13 |
mouse |
| Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishigur. A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33272776. |
spinocerebellar ataxia, autosomal recessive 2 (scar2) [mim:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. |
2021-10-04 |
2023-08-13 |
Not clear |
| Sara AlHilali, Nada H AlMadhi, Eman D AlBalaw. Ophthalmic Features of Spinocerebellar Ataxia Type 7: A Case Report. The American journal of case reports. vol 22. 2021-06-22. PMID:34148052. |
background spinocerebellar ataxia (sca) is an inherited progressive neurodegenerative disorder characterized by late-onset cerebellar and brainstem dysfunction. |
2021-06-22 |
2023-08-13 |
Not clear |
| Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussai. Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report). The Pan African medical journal. vol 38. 2021-05-25. PMID:33995769. |
the cag repeat expansion in the ataxin-7 gene (atxn7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. |
2021-05-25 |
2023-08-13 |
Not clear |
| Isabel Lastres-Becker, David Nonis, Joachim Nowock, Georg Auburge. New alternative splicing variants of the ATXN2 transcript. Neurological research and practice. vol 1. 2020-12-17. PMID:33324888. |
spinocerebellar ataxia type 2 (sca2) is an autosomal dominant disorder with progressive degeneration of cerebellar purkinje cells and selective loss of neurons in the brainstem. |
2020-12-17 |
2023-08-13 |
mouse |
| Dinesh K Deelchand, James M Joers, Adarsh Ravishankar, Tianmeng Lyu, Uzay E Emir, Diane Hutter, Christopher M Gomez, Khalaf O Bushara, Christophe Lenglet, Lynn E Eberly, Gülin Ö. Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1. Movement disorders clinical practice. vol 6. issue 7. 2020-10-23. PMID:31538089. |
spinocerebellar ataxia type 1 (sca1) causes progressive degeneration of the cerebellum and brainstem. |
2020-10-23 |
2023-08-13 |
Not clear |
| Cara Kraus-Perrotta, Sarita Lagalwa. Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1. Cerebellum & ataxias. vol 3. 2020-09-30. PMID:27895927. |
spinocerebellar ataxia type 1 (sca1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. |
2020-09-30 |
2023-08-13 |
cat |
| Chi-Wen Jao, Bing-Wen Soong, Chao-Wen Huang, Chien-An Duan, Chih-Chun Wu, Yu-Te Wu, Po-Shan Wan. Diffusion Tensor Magnetic Resonance Imaging for Differentiating Multiple System Atrophy Cerebellar Type and Spinocerebellar Ataxia Type 3. Brain sciences. vol 9. issue 12. 2020-09-28. PMID:31817016. |
multiple system atrophy cerebellar type (msa-c) and spinocerebellar ataxia type 3 (sca3) demonstrate similar manifestations, including ataxia, pyramidal and extrapyramidal signs, as well as atrophy and signal intensity changes in the cerebellum and brainstem. |
2020-09-28 |
2023-08-13 |
Not clear |
| Anna Niewiadomska-Cimicka, Yvon Trottie. Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31432449. |
spinocerebellar ataxia type 7 (sca7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to cerebellar ataxia and blindness as major symptoms. |
2020-08-24 |
2023-08-13 |
Not clear |
| Lauren R Moore, Laura Keller, David D Bushart, Rodrigo G Delatorre, Duojia Li, Hayley S McLoughlin, Maria do Carmo Costa, Vikram G Shakkottai, Gary D Smith, Henry L Paulso. Antisense oligonucleotide therapy rescues aggresome formation in a novel spinocerebellar ataxia type 3 human embryonic stem cell line. Stem cell research. vol 39. 2020-04-27. PMID:31374463. |
spinocerebellar ataxia type 3 (sca3) is a fatal, late-onset neurodegenerative disorder characterized by selective neuropathology in the brainstem, cerebellum, spinal cord, and substantia nigra. |
2020-04-27 |
2023-08-13 |
human |
| Pietro B Azevedo, Anastácia G Rocha, Leda M N Keim, Daniel Lavinsky, Gabriel V Furtado, Eduardo P de Mattos, Fernando R Vargas, Vanessa B Leotti, Maria-Luiza Saraiva-Pereira, Laura B Jardi. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30637674. |
spinocerebellar ataxia type 7 (sca7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. |
2019-12-06 |
2023-08-13 |
human |