Article

Frontal deficits and atrophy in a patient with neuroserpinosis detected by single-case voxel-based morphometry: A case report

2023-11-09

Abstract excerpt

<h4>Background: </h4> Neuroserpinosis is a rare genetic disorder characterized by progressive cognitive decline and myoclonic epilepsy, caused by pathogenic variants of SERPINI1 . We reported a case of genetically confirmed neuroserpinosis with de novo H338R mutation in the SERPINI1 , in which frontal deficits including inattention and disinhibition, and relevant atrophy in the vmPFC on brain MRI were observed in...

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Literature Corpus work: 7126ef22-6e03-5baf-bed5-e6652e36fc43
DOI: 10.21203/rs.3.rs-3563342/v1

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