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Lint: kufor-rakeb-syndrome

Emphasis
warning

"The gene responsible has been named ATP13A2 and is located on chromosome 1p36 1,3. The disease has an autosomal recessive pattern of inheritance 1-3."

Line 8:40 · Italics should be used only in exceptional circumstances: '<em>ATP13A2</em>'
Oxford Comma
suggestion

"Kufor-Rakeb syndrome has a juvenile onset, with features of Parkinson disease as well as additional features including spasticity, dementia and supranuclear gaze palsy 1,2."

Line 5:130 · Use the Oxford comma in 'spasticity, dementia and supranuclear'.