Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.

ABSTRACT:

Background and purpose

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by a wide range of clinical manifestations. GGC-repeat expansion in NOTCH2NLC was recently identified as the genetic cause of NIID. Here we report clinical, radiological, pathological, and genetic findings in NIID patients.

Methods

Twenty-five NIID patients from 22 unrelated families of Korean ancestry were reviewed from 9 referral centers in South Korea. We compared clinical features between sporadic and familial NIID patients. We classified NIID patients according to their prominent symptoms. The presence of GGC repeat expansion was analyzed in 19 patients.

Results

The 25 reviewed NIID patients comprised 12 (48.0%) sporadic and 13 (52

SUBMITTER: Chun MY 

PROVIDER: S-EPMC12303689 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature