| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarni. Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes. Human genome variation. vol 11. issue 1. 2024-09-02. PMID:39214971. |
a large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (arcas) are rare, with greater diversity in phenotypic and genotypic features. |
2024-09-02 |
2024-09-04 |
Not clear |
| Oliver Liesmäki, Jaakko Kungshamn, Olli Likitalo, Elizabeth G Ellis, Albert Bellmunt-Gil, Juho Aaltonen, Ida Steinweg, Elina M Myller, Susanna Roine, Maximilian U Friedrich, Pauli Ylikotila, Juho Jouts. Localization and Network Connectivity of Lesions Causing Limb Ataxia in Patients With Stroke. Neurology. vol 103. issue 6. 2024-08-29. PMID:39208366. |
ataxia is primarily considered to originate from the cerebellum. |
2024-08-29 |
2024-09-04 |
Not clear |
| Oliver Liesmäki, Jaakko Kungshamn, Olli Likitalo, Elizabeth G Ellis, Albert Bellmunt-Gil, Juho Aaltonen, Ida Steinweg, Elina M Myller, Susanna Roine, Maximilian U Friedrich, Pauli Ylikotila, Juho Jouts. Localization and Network Connectivity of Lesions Causing Limb Ataxia in Patients With Stroke. Neurology. vol 103. issue 6. 2024-08-29. PMID:39208366. |
however, it can manifest without obvious cerebellar damage, such as in anterior circulation stroke, leaving the mechanisms of ataxia unclear. |
2024-08-29 |
2024-09-04 |
Not clear |
| Elena Eliseeva, Mohd Yaseen Malik, Liliana Minichiell. Ablation of TrkB from Enkephalinergic Precursor-Derived Cerebellar Granule Cells Generates Ataxia. Biology. vol 13. issue 8. 2024-08-28. PMID:39194574. |
this study investigated whether dysfunctional bdnf-trkb signalling restricted to a specific subset of cerebellar gcs can generate ataxia in mice. |
2024-08-28 |
2024-08-30 |
mouse |
| Hasara Jayasekara, Janitha Sampath Wickramarathne, Damith Sanjaya Liyanage, Peduru Arachchige Jayasingh. Opsoclonus-myoclonus-ataxia syndrome associated with bacterial urinary tract infection. BMJ case reports. vol 17. issue 8. 2024-08-23. PMID:39179267. |
opsoclonus-myoclonus-ataxia syndrome (omas) is a rare acquired neurological disorder characterized by opsoclonus, focal or diffuse myoclonus, truncal instability and associated other cerebellar signs and ataxia. |
2024-08-23 |
2024-08-27 |
Not clear |
| Francesca Magrinelli, Kailash P Bhati. Paroxysmal movement disorders. Handbook of clinical neurology. vol 203. 2024-08-22. PMID:39174246. |
paroxysmal movement disorders include two groups of intermittent neurologic disorders: paroxysmal dyskinesia, in which episodes of involuntary hyperkinetic movements (mainly chorea and/or dystonia) occur with preserved consciousness, and episodic ataxias, which are characterized by discrete attacks of cerebellar dysfunction, sometimes associated with progressive ataxia. |
2024-08-22 |
2024-08-25 |
Not clear |
| Shafagh Sharafi, Zahra Rezvan. Investigation of Spinocerebellar Ataxia (SCA) Disease in Iranian Patients and Accurate Trinucleotide Repeat Detection in the SCA3 by TP-PCR Method. Molecular neurobiology. 2024-08-18. PMID:39155322. |
these progressive neurological diseases have clinical features of ataxia and are derived from the destruction of the cerebellum. |
2024-08-18 |
2024-08-21 |
Not clear |
| Young Don Kwak, Timothy I Shaw, Susanna M Downing, Ambika Tewari, Hongjian Jin, Yang Li, Lavinia C Dumitrache, Sachin Katyal, Kamran Khodakhah, Helen R Russell, Peter J McKinno. Chromatin architecture at susceptible gene loci in cerebellar Purkinje cells characterizes DNA damage-induced neurodegeneration. Science advances. vol 7. issue 51. 2024-08-15. PMID:34910524. |
we show that neurodegeneration and ataxia result from transcriptional interference in the cerebellum via aberrant messenger rna splicing. |
2024-08-15 |
2024-08-17 |
Not clear |
| E Sohns, D J Szmulewicz, A A Tarnutze. Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements. Cerebellum (London, England). 2024-07-27. PMID:39066865. |
disease-specific oculomotor assessments play a crucial role in the early diagnosis of hereditary cerebellar ataxias. |
2024-07-27 |
2024-08-02 |
Not clear |
| Hiroshi Mitoma, Mario Mant. Recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms. Journal of neurology. 2024-07-25. PMID:39052041. |
recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms. |
2024-07-25 |
2024-07-28 |
Not clear |
| Hiroshi Mitoma, Mario Mant. Recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms. Journal of neurology. 2024-07-25. PMID:39052041. |
immune-mediated cerebellar ataxias (imcas) represent a group of disorders in which the immune system targets mainly the cerebellum and related structures. |
2024-07-25 |
2024-07-28 |
Not clear |
| Hiroshi Mitoma, Mario Mant. Recent advances in diagnosis of immune-mediated cerebellar ataxias: novel concepts and fundamental questions on autoimmune mechanisms. Journal of neurology. 2024-07-25. PMID:39052041. |
various types of imcas have been identified, including post-infectious cerebellitis, miller fisher syndrome, gluten ataxia, paraneoplastic cerebellar degeneration (pcd), opsoclonus and myoclonus syndrome, and anti-gad ataxia. |
2024-07-25 |
2024-07-28 |
Not clear |
| Intissar Barbouch, Amina Ali Kako, Yassine Mebrou. Comprehensive Evaluation of Sporadic Late-Onset Cerebellar Ataxias: Clinical Presentation, Diagnostic Challenges, and Treatment Outcomes. Cureus. vol 16. issue 6. 2024-07-22. PMID:39036235. |
comprehensive evaluation of sporadic late-onset cerebellar ataxias: clinical presentation, diagnostic challenges, and treatment outcomes. |
2024-07-22 |
2024-07-24 |
Not clear |
| Intissar Barbouch, Amina Ali Kako, Yassine Mebrou. Comprehensive Evaluation of Sporadic Late-Onset Cerebellar Ataxias: Clinical Presentation, Diagnostic Challenges, and Treatment Outcomes. Cureus. vol 16. issue 6. 2024-07-22. PMID:39036235. |
sporadic late-onset cerebellar ataxias (sloca) present a diagnostic challenge due to their heterogeneous etiologies and complex clinical manifestations. |
2024-07-22 |
2024-07-24 |
Not clear |
| Albert J Fenoy, Zili D Chu, Robert J Ritter, Christopher R Conner, Stephen F Krali. Evaluating functional connectivity differences between DBS ON/OFF states in essential tremor. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 21. issue 4. 2024-07-13. PMID:38824101. |
a sub-group analysis of patients with greater ataxia had significantly decreased functional connectivity between multiple rois in the cortex and cerebellum when dbs was on compared to off. |
2024-07-13 |
2024-07-16 |
Not clear |
| Marian Y Girgis, Eman Mahfouz, Alshaimaa Abdellatif, Farah Taha, Walaa ElNagga. Cerebral Folate Transport Deficiency in 2 Cases with Intractable Myoclonic Epilepsy. Journal of epilepsy research. vol 14. issue 1. 2024-07-10. PMID:38978529. |
in conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, intractable myoclonic epilepsy, ataxia with neuroimaging suggesting cerebellar atrophy and brain calcifications. |
2024-07-10 |
2024-07-12 |
Not clear |
| Marie Beaudin, Nicolas Dupre, Mario Mant. The importance of synthetic pharmacotherapy for recessive cerebellar ataxias. Expert review of neurotherapeutics. 2024-07-09. PMID:38980086. |
the importance of synthetic pharmacotherapy for recessive cerebellar ataxias. |
2024-07-09 |
2024-07-12 |
Not clear |
| Sareh Hosseinpour, Maryam Bemanalizadeh, Pouria Mohammadi, Mahmoud Reza Ashrafi, Morteza Heidar. An overview of early-onset cerebellar ataxia: a practical guideline. Acta neurologica Belgica. 2024-07-01. PMID:38951452. |
they are mainly manifested by degeneration or abnormal development of the cerebellum occurring before the age of 25 years and typically the pattern of inheritance is autosomal recessive.the diagnosis of autosomal recessive cerebellar ataxias (arcas) is confirmed by the clinical, laboratory, electrophysiological examination, neuroimaging findings, and mutation analysis when the causative gene is detected. |
2024-07-01 |
2024-07-04 |
Not clear |
| Eboni M V Bucknor, Errin Johnson, Stephanie Efthymiou, Javeria R Alvi, Tipu Sultan, Henry Houlden, Reza Maroofian, Ehsan G Karimiani, Mattéa J Finelli, Peter L Olive. Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum. Antioxidants (Basel, Switzerland). vol 13. issue 6. 2024-06-27. PMID:38929124. |
loss-of-function mutations in the tldc family of proteins cause a range of severe childhood-onset neurological disorders with common clinical features that include cerebellar neurodegeneration, ataxia and epilepsy. |
2024-06-27 |
2024-06-29 |
mouse |
| Sudan Zhu, Yuting Shi, Zhao Chen, Zhe Long, Linlin Wan, Daji Chen, Xinrong Yuan, You Fu, Feiyan Deng, Xiafei Long, Kefang Du, Rong Qiu, Beisha Tang, Chunrong Wang, Hong Jian. The characteristic and biomarker value of transcranial sonography in cerebellar ataxia. Annals of clinical and translational neurology. 2024-06-26. PMID:38924300. |
we aimed to assess the potential value of tcs in patients with cerebellar ataxias for disease diagnosis and severity assessment. |
2024-06-26 |
2024-06-29 |
Not clear |