| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shuang Chen, Man Li, Ming Huan. Vagus nerve stimulation for the therapy of Dravet syndrome: a systematic review and meta-analysis. Frontiers in neurology. vol 15. 2024-07-24. PMID:39045432. |
dravet syndrome (ds) is a refractory developmental and epileptic encephalopathy characterized by seizures, developmental delay and cognitive impairment with a variety of comorbidities, including autism-like behavior, speech dysfunction, and ataxia. |
2024-07-24 |
2024-07-26 |
Not clear |
| Arunan Selvarajah, Carolina Gorodetsky, Paula Marques, Quratulain Zulfiqar Ali, Anne T Berg, Alfonso Fasano, Danielle M Andrad. Progressive Worsening of Gait and Motor Abnormalities in Older Adults With Dravet Syndrome. Neurology. 2022-04-14. PMID:35418450. |
in addition to some of the gait abnormalities reported in children with ds (such as crouch gait and ataxia), adults with this condition have other gait and motor disturbances. |
2022-04-14 |
2023-08-13 |
Not clear |
| Júlia Sala-Coromina, Miquel Raspall-Chaure, Anna Marcé-Grau, Alejandro Martinez de la Ossa, Alfons Macay. Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome. Seizure. vol 92. 2021-11-16. PMID:34521063. |
in addition to ataxia and progressive crouch gait, parkinsonism has recently been reported as characteristic in young adults with ds. |
2021-11-16 |
2023-08-13 |
Not clear |
| Neide Vieira, Teresa Rito, Margarida Correia-Neves, Nuno Sous. Sorting Out Sorting Nexins Functions in the Nervous System in Health and Disease. Molecular neurobiology. vol 58. issue 8. 2021-07-21. PMID:33931804. |
snxs dysregulation occurs in patients with alzheimer's disease (ad), down's syndrome (ds), schizophrenia, ataxia and epilepsy, among others, establishing clear roles for this protein family in pathology. |
2021-07-21 |
2023-08-13 |
mouse |
| Walter J Lukiw, Theodore P A Kruck, Maire E Percy, Aileen I Pogue, Peter N Alexandrov, William J Walsh, Nathan M Sharfman, Vivian R Jaber, Yuhai Zhao, Wenhong Li, Catherine Bergeron, Frank Culicchia, Zhide Fang, Donald R C McLachla. Aluminum in neurological disease - a 36 year multicenter study. Journal of Alzheimer's disease & Parkinsonism. vol 8. issue 6. 2020-09-30. PMID:31179161. |
neurological diseases examined were ad (n=186), ataxia friedreich's type (aft; n=6), amyotrophic lateral sclerosis (als; n=16), autism spectrum disorder (asd; n=26), dialysis dementia syndrome (dds; n=27), down's syndrome (ds; trisomy21; n=24), huntington's chorea (hc; n=15), multiple infarct dementia (mid; n=19), multiple sclerosis (ms; n=23), parkinson's disease (pd; n=27), prion disease (prd; n=11) including bovine spongiform encephalopathy (bse; 'mad cow disease'), creutzfeldt-jakob disease (cjd) and gerstmann-straussler-sheinker syndrome (gss), progressive multifocal leukoencephalopathy (pml; n=11), progressive supranuclear palsy (psp; n=24), schizophrenia (scz; n=21), a young control group (ycg; n=22) and an aged control group (acg; n=53). |
2020-09-30 |
2023-08-13 |
human |
| Donald R C McLachlan, Catherine Bergeron, Peter N Alexandrov, William J Walsh, Aileen I Pogue, Maire E Percy, Theodore P A Kruck, Zhide Fang, Nathan M Sharfman, Vivian Jaber, Yuhai Zhao, Wenhong Li, Walter J Luki. Aluminum in Neurological and Neurodegenerative Disease. Molecular neurobiology. vol 56. issue 2. 2019-07-11. PMID:30706368. |
neurological diseases examined were alzheimer's disease (ad; n = 186), ataxia friedreich's type (aft; n = 6), amyotrophic lateral sclerosis (als; n = 16), autism spectrum disorder (asd; n = 26), dialysis dementia syndrome (dds; n = 27), down's syndrome (ds; trisomy, 21; n = 24), huntington's chorea (hc; n = 15), multiple infarct dementia (mid; n = 19), multiple sclerosis (ms; n = 23), parkinson's disease (pd; n = 27), and prion disease (prd; n = 11) that included bovine spongiform encephalopathy (bse; "mad cow disease"), creutzfeldt-jakob disease (cjd) and gerstmann-straussler-sheinker syndrome (gss), progressive multifocal leukoencephalopathy (pml; n = 11), progressive supranuclear palsy (psp; n = 24), schizophrenia (scz; n = 21), a young control group (ycg; n = 22; mean age, 10.2 ± 6.1 year), and an aged control group (acg; n = 53; mean age, 71.4 ± 9.3 year). |
2019-07-11 |
2023-08-13 |
human |
| Dmitry Tchapyjnikov, Mohamad A Mikat. Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature. The neurologist. vol 23. issue 1. 2018-07-25. PMID:29266039. |
episodic ataxia (ea) secondary to glut1 ds has been previously reported, but all previous patients had seizures and/or baseline abnormalities on neurological examination. |
2018-07-25 |
2023-08-13 |
Not clear |
| Pierangelo Veggiotti, Federica Teutonico, Enrico Alfei, Nardo Nardocci, Giovanna Zorzi, Anna Tagliabue, Valentina De Giorgis, Umberto Balotti. Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype. Brain & development. vol 32. issue 5. 2010-06-24. PMID:19515520. |
glucose transporter type i deficiency syndrome (glut-1 ds) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. |
2010-06-24 |
2023-08-12 |
Not clear |
| Ana Lloret, Rita Calzone, Christina Dunster, Paola Manini, Marco d'Ischia, Paolo Degan, Frank J Kelly, Federico V Pallardó, Adriana Zatterale, Giovanni Pagan. Different patterns of in vivo pro-oxidant states in a set of cancer- or aging-related genetic diseases. Free radical biology & medicine. vol 44. issue 4. 2008-03-06. PMID:18053816. |
a comparative evaluation is reported of pro-oxidant states in 82 patients with ataxia telangectasia (at), bloom syndrome (bs), down syndrome (ds), fanconi anemia (fa), werner syndrome (ws), and xeroderma pigmentosum (xp) vs 98 control donors. |
2008-03-06 |
2023-08-12 |
Not clear |