Article

Bi-allelic<i>NIT1</i>variants cause small vessel disease with movement disorders and massive non-lobar intracerebral haemorrhage

2023-05-21

Abstract excerpt

Highly penetrant monogenic causes of intracerebral haemorrhage are rare, and are almost exclusively hereditary cerebral amyloid angiopathies caused by heterozygous pathogenic variants in the APP gene. Here, we identified a novel genetic cause of mid-adult onset non-lobar ICH, caused by bi-allelic pathogenic variants in the NIT1 gene. The seven identified patients from five unrelated pedigrees presented with moveme...

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Literature Corpus work: f848bbce-44bb-5b39-9b8b-913bdf9ea431
DOI: 10.1101/2023.05.16.23289676

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