NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics.

ABSTRACT:

Objective

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting a potential genetic contribution. However, it remains unclear whether such cases represent NIID-related parkinsonism or typical PD. To address this, we screened NOTCH2NLC repeat expansions in a parkinsonian cohort and analyzed associated clinical and neuroimaging features.

Methods

We examined 1017 unrelated patients with PD, 115 with aPM, 11 with multiple system atrophy, six with progressive supranuclear palsy, three with dementia with

SUBMITTER: Chiang HL 

PROVIDER: S-EPMC12623824 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature