| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbho. Heterozygous deletion in exon 6 of BMJ case reports. vol 14. issue 6. 2021-07-02. PMID:34193451. |
heterozygous deletion in exon 6 of ataxia with oculomotor apraxia type 2 (aoa2), recently renamed as atx-setx, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. |
2021-07-02 |
2023-08-13 |
Not clear |
| Marianna Pinheiro Moraes de Moraes, Augusto Bragança Reis Rosa, Cristina Saade Jaques, Victor Hugo Rocha Marussi, José Luiz Pedroso, Orlando Graziani Barsottin. X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement. Arquivos de neuro-psiquiatria. vol 79. issue 5. 2021-06-29. PMID:34161534. |
x-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement. |
2021-06-29 |
2023-08-13 |
Not clear |
| Iskra Araujo, Amy Henriksen, Joshua Gamsby, Danielle Gulic. Impact of Alcohol Abuse on Susceptibility to Rare Neurodegenerative Diseases. Frontiers in molecular biosciences. vol 8. 2021-06-29. PMID:34179073. |
these specific diseases include dementias (alcohol-induced, frontotemporal, and korsakoff syndrome), ataxias (cerebellar and frontal), and niemann-pick disease (primarily a type b variant and type c). |
2021-06-29 |
2023-08-13 |
Not clear |
| Denise J Berger, Marcella Masciullo, Marco Molinari, Francesco Lacquaniti, Andrea d'Avell. Does the cerebellum shape the spatiotemporal organization of muscle patterns? Insights from subjects with cerebellar ataxias. Journal of neurophysiology. vol 123. issue 5. 2021-06-25. PMID:32159425. |
insights from subjects with cerebellar ataxias. |
2021-06-25 |
2023-08-13 |
human |
| Denise J Berger, Marcella Masciullo, Marco Molinari, Francesco Lacquaniti, Andrea d'Avell. Does the cerebellum shape the spatiotemporal organization of muscle patterns? Insights from subjects with cerebellar ataxias. Journal of neurophysiology. vol 123. issue 5. 2021-06-25. PMID:32159425. |
in this study, we recorded electromyographic activity from 13 shoulder and arm muscles in subjects with cerebellar ataxias (ca) and in age-matched healthy subjects (hs) while they performed reaching movements in multiple directions. |
2021-06-25 |
2023-08-13 |
human |
| Jacob A Parker, Shabbir H Merchant, Sanaz Attaripour-Isfahani, Hyun Joo Cho, Patrick McGurrin, Brian P Brooks, Albert R La Spada, Mark Hallett, Laryssa A Huryn, Silvina G Horovit. In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7. NeuroImage. Clinical. vol 29. 2021-06-25. PMID:33516934. |
the scale for the assessment and rating of ataxia trended towards correlation with cerebellar pvf (r = -0.66, p = 0.104, fdr corrected) and global white matter pfa (r = -0.64, p = 0.104, fdr corrected). |
2021-06-25 |
2023-08-13 |
human |
| Sara Loddo, Viola Alesi, Francesca Clementina Radio, Silvia Genovese, Silvia Di Tommaso, Giusy Calvieri, Valeria Orlando, Enrico Bertini, Maria Lisa Dentici, Antonio Novelli, Bruno Dallapiccol. PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. American journal of medical genetics. Part A. vol 182. issue 12. 2021-06-24. PMID:32985083. |
our patient, the oldest among the known subjects affected by ppp1r21-related syndrome, manifested intellectual disability, short stature, congenital ataxia with cerebellar vermis hypoplasia, generalized hypertrichosis, ulcerative keratitis, muscle weakness, progressive coarse appearance, macroglossia with fissured tongue, and deep palmar and plantar creases. |
2021-06-24 |
2023-08-13 |
human |
| Nidaa A Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdulla M Alzibdeh, Asim N Khanfar, Ahmad M Altantawi, Abdee T Ryalat, Basil Sharrack, Abdalla Awid. Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. Stem cell research. vol 48. 2021-06-21. PMID:32769066. |
ataxia with oculomotor apraxia type 1 (aoa1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. |
2021-06-21 |
2023-08-13 |
Not clear |
| Lionel Paternoster, Julie Soblet, Alec Aeby, Xavier De Tiège, Serge Goldman, Wyatt W Yue, Sandra Coppens, Guillaume Smits, Catheline Vilain, Nicolas Deconinc. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3. American journal of medical genetics. Part A. vol 182. issue 11. 2021-06-21. PMID:32808436. |
in contrast, the observation of clear cerebellar abnormal metabolic findings suggests that the fdg-pet scan may be used as an early marker for hereditary ataxia. |
2021-06-21 |
2023-08-13 |
Not clear |
| Laurence Newrick, Nigel Hoggard, Marios Hadjivassilio. Recognition and management of rapid-onset gluten ataxias: case series. Cerebellum & ataxias. vol 8. issue 1. 2021-06-18. PMID:34120658. |
most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (gluten ataxia), tend to present subacutely and usually progress gradually. |
2021-06-18 |
2023-08-13 |
Not clear |
| Evgenii Nuzhnyi, Ekaterina Fedotova, Alla Kovrigina, Svetlana Glinkina, Anna Moskalenko, Sergey Illarioshki. Immune-mediated ataxia with cerebellar hemiatrophy and dystonia associated with Castleman disease. Clinical neurology and neurosurgery. vol 200. 2021-06-17. PMID:33338826. |
immune-mediated ataxia with cerebellar hemiatrophy and dystonia associated with castleman disease. |
2021-06-17 |
2023-08-13 |
Not clear |
| S Sarrazin, C Hein, J Delrieu, S Crestani, S Menhour, E Gilbert-Fontan, G Abellan van Ka. Amiodarone-induced Ataxia: A Case Report of Severe Cerebellar Dysfunction and Review of Literature. The journal of nutrition, health & aging. vol 25. issue 3. 2021-06-04. PMID:33575717. |
amiodarone-induced ataxia: a case report of severe cerebellar dysfunction and review of literature. |
2021-06-04 |
2023-08-13 |
Not clear |
| Fatma Kurt Colak, Naz Guleray, Ebru Azapagasi, Mutlu Uysal Yazıcı, Erhan Aksoy, Nesrin Ceyla. An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity. Acta neurologica Belgica. vol 120. issue 6. 2021-05-31. PMID:33040300. |
since the discovery of brat1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (rmfsl, omim 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (nedcas, omim 618056), epilepsy of infancy with migrating focal seizures (eimfs), and congenital ataxia (ca). |
2021-05-31 |
2023-08-13 |
Not clear |
| Juan Se Bastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García, Martin Kidd, Colleen Muraresku, Amy Goldstein, Arastoo Vossoug. Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders. Cerebellum (London, England). 2021-05-30. PMID:34052969. |
this study aims to explore cerebellar and brain abnormalities identified on mri as potential predictors of ataxia in patients with pmd and, likewise, to determine the effect of the patient's genetic profile on these predictors as well as determination of the temporal relationship of clinical ataxia with mri findings. |
2021-05-30 |
2023-08-13 |
Not clear |
| Juan Se Bastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García, Martin Kidd, Colleen Muraresku, Amy Goldstein, Arastoo Vossoug. Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders. Cerebellum (London, England). 2021-05-30. PMID:34052969. |
cerebellar atrophy or putaminal involvement with mitochondrial dna (mtdna) mutations (or 1.18, 95% ci 1.1-1.3, p < 0.001) and nuclear dna mutation with no atrophy of the cerebellum (or 1.14, 95% ci 1.0-1.3, p = 0.007) predicted an increased likelihood of having ataxia per year of age. |
2021-05-30 |
2023-08-13 |
Not clear |
| Juan Se Bastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García, Martin Kidd, Colleen Muraresku, Amy Goldstein, Arastoo Vossoug. Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders. Cerebellum (London, England). 2021-05-30. PMID:34052969. |
ataxia tended to precede the imaging finding of cerebellar atrophy. |
2021-05-30 |
2023-08-13 |
Not clear |
| Juan Se Bastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García, Martin Kidd, Colleen Muraresku, Amy Goldstein, Arastoo Vossoug. Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders. Cerebellum (London, England). 2021-05-30. PMID:34052969. |
cerebellar atrophy and putaminal involvement on mri of pediatric-onset pmd may predict the presence of ataxia with age in patients with mtdna mutations. |
2021-05-30 |
2023-08-13 |
Not clear |
| R Palvadeau, Z E Kaya-Güleç, G Şimşir, A Vural, Ö Öztop-Çakmak, G Genç, M S Aygün, O Falay, A Nazlı Başak, S Erta. Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics. vol 21. issue 1. 2021-05-28. PMID:31741143. |
cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a turkish sca48 family. |
2021-05-28 |
2023-08-13 |
Not clear |
| R Palvadeau, Z E Kaya-Güleç, G Şimşir, A Vural, Ö Öztop-Çakmak, G Genç, M S Aygün, O Falay, A Nazlı Başak, S Erta. Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics. vol 21. issue 1. 2021-05-28. PMID:31741143. |
sca48 is a novel spinocerebellar ataxia (sca) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (ccas) and late-onset ataxia caused by mutations on the stub1 gene. |
2021-05-28 |
2023-08-13 |
Not clear |
| Hatice Mutlu-Albayrak, Emre Kırat, Gürkan Gürbü. Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey. Neurogenetics. vol 21. issue 1. 2021-05-28. PMID:31741144. |
autosomal recessive ataxias (aras) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar tract, and/or the sensory tracts of the spinal cord. |
2021-05-28 |
2023-08-13 |
Not clear |