Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

Abstract Background Familial encephalopathy with neuroserpin inclusion bodies (FENIB) 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 FENIB with de novo H338R muta...

Full description

Bibliographic Details
Main Authors: Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Neurology
Subjects:
Familial encephalopathy with neuroserpin inclusion bodies (FENIB)
SERPINI1
Progressive myoclonic epilepsy (PME)
Voxel based morphometry (VBM)
Online Access:https://doi.org/10.1186/s12883-023-03511-0

Internet

https://doi.org/10.1186/s12883-023-03511-0

Similar Items