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  1. 1 day ago · Prognosis. Ataxia-telangiectasia (A-T) is a rare genetic disorder affecting around one in 40,000 to one in 100,000 Americans. It's caused by genetic mutations that are passed down from parent to child. A-T affects a range of body systems, including the nervous system and immune system. Personal risk factors for A-T depend on your genetics.

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  3. 11 hours ago · QNCX. Quince Therapeutics has disclosed outcomes from the Phase III ATTeST clinical trial of EryDex (dexamethasone sodium phosphate encapsulated in autologous erythrocytes) for treating Ataxia ...

  4. 2 days ago · In 2023, two papers were published which identified a genetic mutation that might be a common cause of late-onset ataxia (ataxia where the start of symptoms occurs relatively late in life). This type of ataxia has been named spinocerebellar ataxia 27B (SCA27B). The newly discovered mutation, which is thought to cause SCA27B, is found in a gene ...

  5. 1 day ago · Cell Death & Disease - Toll-like receptor 4 deficiency in Purkinje neurons drives cerebellar ataxia by impairing the BK channel-mediated after-hyperpolarization and cytosolic calcium homeostasis.

  6. 3 days ago · Spinocerebellar ataxia represents a group of slow and progressive neurodegenerative diseases of varying inherited degrees of rarity, which is in contrast to a related group of neurological disorders that are acquired following traumatic injuries or other external agents.

  7. 2 days ago · Variants within these exons have been reported in patients with heterogeneous presentations. 6, 7 Mild phenotypes of HIBCH deficiency have been described, such as a father and son suffering from mild intellectual disability and non-progressive ataxia triggered by a febrile seizure during infancy and a few patients presenting with paroxysmal ...

  8. 2 days ago · An expert in Friedreich's ataxia evaluates the mFARS (modified Friedreich's Ataxia Rating Scale) measurement tool, highlighting its advantages and limitations, while also exploring alternative ...

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