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Lint: heidenhain-variant-of-sporadic-creutzfeldt-jakob-disease

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"The disease progresses rapidly, with a mean illness duration of about 46 months from onset to death 4,5."

Line 11:75 · Use a hyphen-minus ('-') instead of an en-dash ('–').
Acronyms
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"Most Heidenhain variant cases are sporadic, but rare genetic forms exist, often associated with PRNP mutations such as V210I 3. The majority of sporadic cases are linked to methionine homozygosity at codon 129 of PRNP and the MM1 molecular subtype, though MM2-cortical and mixed types have also been described, sometimes correlating with a longer disease course 1,3,6."

Line 4:100 · 'PRNP' has no definition. Spell it out if it's unfamiliar to the audience.

"Most Heidenhain variant cases are sporadic, but rare genetic forms exist, often associated with PRNP mutations such as V210I 3. The majority of sporadic cases are linked to methionine homozygosity at codon 129 of PRNP and the MM1 molecular subtype, though MM2-cortical and mixed types have also been described, sometimes correlating with a longer disease course 1,3,6."

Line 4:228 · 'PRNP' has no definition. Spell it out if it's unfamiliar to the audience.
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"The typical clinical presentation consists of early and often isolated onset of visual disturbances, such as blurred vision, visual field defects, visual hallucinations, and cortical blindness, before the development of cognitive decline or other neurological symptoms 1,5."

Line 6:103 · More than 5 commas in a single sentence might make it more difficult to read.