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Abstract Details

Characterization of the Taiwanese Cohort of Neuronal Intranuclear Inclusion Disease
General Neurology
N1 - Neuroscience in the Clinic: Repeat Expansion Disorders in Neurological Disease (12:45 PM-12:55 PM)
001

NIID is a neurodegenerative disorder caused by GGC repeat expansions in the 5’-untranslated region of the NOTCH2NLC gene. Early diagnosis is challenging due to highly variable clinical presentations, including cognitive decline, leukoencephalopathy, acute encephalitis-like episodes, parkinsonism, tremor, ataxia, peripheral neuropathy, retinopathy, oculopharyngodistal myopathy, and amyotrophic lateral sclerosis (ALS).

To enhance understanding of the phenotypic spectrum, clinical distribution, and MRI features of neuronal intranuclear inclusion disease (NIID).

 

We recruited 87 Taiwanese patients with genetically confirmed NIID using fragment analysis and repeat-primed PCR. Demographic data, NOTCH2NLC GGC repeat sizes, clinical manifestations, and MRI findings were analyzed.

The cohort included 28 men and 59 women, with a mean age of symptom onset of 60 ± 9.8 years (range: 21–78). The average expanded GGC repeat size was 113.8 ± 26.7 (range: 66–223). Skin biopsies from five patients revealed eosinophilic, p62-positive intranuclear inclusions. Initial clinical presentations included cognitive decline (30.2%), acute encephalitis-like episodes (3.9%), tremor/bradykinesia/ataxia (25.6%), and peripheral neuropathy (9.3%). Prior to genetic confirmation, 63 patients (72.4%) were diagnosed with NIID and 24 patients (27.6%) had alternative diagnoses, including cerebral small vessel disease (7 patients), Parkinson's disease (5 patients), Charcot-Marie-Tooth disease (3 patients), cerebellar ataxia (3 patients), ALS (1 patient), and mitochondrial disease (1 patient). MRI showed subcortical and periventricular white matter hyperintensities (WMH) in 87.2% of patients. WMH of the paravermis was observed in 53.5%, and middle cerebellar peduncle involvement was noted in 23.3%. Diffusion-weighted imaging (DWI) revealed curvilinear hyperintensities at the corticomedullary junction in 72.4% of patients.

This study highlights the broad clinical spectrum of NIID. MRI, particularly DWI, is crucial for identifying NIID-specific features. Increased awareness of NIID across a wide range of clinical syndromes and recognition of these MRI features may promote earlier diagnosis and lead to improved management.

Authors/Disclosures
Yi-Chung Lee, MD, FAAN (Taipei Veterans General Hospital)
PRESENTER
The institution of Dr. Lee has received research support from National Science and technology Council Taiwan . The institution of Dr. Lee has received research support from Taipei Veterans General Hospital Taiwan.
Yi-Chu Liao, MD (Taipei Veterans General Hospital, Neurological Institute) Dr. Liao has nothing to disclose.