🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia. 🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity. 🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes. 🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.
🖊 Friedreich’s ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia. 🖊 In the majority of cases the disease is caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, and the shorter repeat expansion length correlates with age at onset and disease severity. 🖊 The clinical phenotype is broad, but consistently involves gait and limb ataxia, dysarthria and loss of lower limb reflexes. 🖊 Our understanding of the genetic aetiology, pathophysiology and clinical phenotype has progressed significantly.
The next bit isn’t clear, but Durov reportedly claimed that his resignation, dated March 21st, was an April Fools’ prank. TechCrunch implies that it was a matter of principle, but it’s hard to be clear on the wheres, whos and whys. Similarly, on April 17th, the Moscow Times quoted Durov as saying that he quit the company after being pressured to reveal account details about Ukrainians protesting the then-president Viktor Yanukovych. At its heart, Telegram is little more than a messaging app like WhatsApp or Signal. But it also offers open channels that enable a single user, or a group of users, to communicate with large numbers in a method similar to a Twitter account. This has proven to be both a blessing and a curse for Telegram and its users, since these channels can be used for both good and ill. Right now, as Wired reports, the app is a key way for Ukrainians to receive updates from the government during the invasion. Channels are not fully encrypted, end-to-end. All communications on a Telegram channel can be seen by anyone on the channel and are also visible to Telegram. Telegram may be asked by a government to hand over the communications from a channel. Telegram has a history of standing up to Russian government requests for data, but how comfortable you are relying on that history to predict future behavior is up to you. Because Telegram has this data, it may also be stolen by hackers or leaked by an internal employee. Unlike Silicon Valley giants such as Facebook and Twitter, which run very public anti-disinformation programs, Brooking said: "Telegram is famously lax or absent in its content moderation policy." The message was not authentic, with the real Zelenskiy soon denying the claim on his official Telegram channel, but the incident highlighted a major problem: disinformation quickly spreads unchecked on the encrypted app.
from ms
