Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.

ABSTRACT:

Background

The rapidly increasing case reports revealed that neuronal intranuclear inclusion disease (NIID) had concomitant other system symptoms besides nervous system symptoms. In this study, we systematically evaluated the symptoms, signs, auxiliary examination, and pathological changes in different systems in NIID patients.

Methods

NIID patients were confirmed by examining GGC repeats in the NOTCH2NLC gene. Clinical data of NIID patients including symptoms, signs, and auxiliary examinations were collected for analysis. Ubiquitin and p62 were detected in different tissues from previous surgical samples.

Results

Fifty-one NIID patients from 17 families were included in this study. Except neurological symptoms, clinical manifestations from other systems were very not

SUBMITTER: Chen H 

PROVIDER: S-EPMC7545592 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature