ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023
The clinical characteristics of neuronal intranuclear inclusion disease and its relation with inflammation.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 9 citations in OpenAlex.
- The Progress of Active Immunotherapy for Parkinson's Disease.International journal of molecular sciences · 2026Review
- Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.BMC neurology · 2026Article
- Inflammation in Neuronal Intranuclear Inclusion Disease (NIID): mechanisms, biomarkers, and therapeutic implications.Journal of neuroinflammation · 2025Review
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9 authors at 4 institutions in 1 country.
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Abstract
backgroundNeuronal intranuclear inclusion disease (NIID) is a great imitator with a broad spectrum of clinical manifestations that include dementia, parkinsonism, paroxysmal symptoms, peripheral neuropathy, and autonomic dysfunction. Hence, it may also masquerade as other diseases such as Alzheimer's disease, Parkinson's disease, and Charcot-Marie-Tooth disease. Recent breakthroughs on neuroimaging, skin biopsy, and genetic testing have facilitated the diagnosis. However, early identification and effective treatment are still difficult in cases of NIID.
objectiveTo further study the clinical characteristics of NIID and investigate the relationship between NIID and inflammation.
methodsWe systematically evaluated the clinical symptoms, signs, MRI and electromyographical findings, and pathological characteristics of 20 NIID patients with abnormal GGC repeats in the NOTCH2NLC gene. Some inflammatory factors in the patients were also studied.
resultsParoxysmal symptoms such as paroxysmal encephalopathy, stroke-like episodes, and mitochondrial encephalomyopathy lactic acidosis and stroke (MELAS)-like episode were the most common phenotypes. Other symptoms such as cognitive dysfunction, neurogenic bladder, tremor, and vision disorders were also suggestive of NIID. Interestingly, not all patients showed apparent diffusion-weighted imaging (DWI) abnormality or intranuclear inclusions, while abnormal GGC repeats of NOTCH2NLC were seen in all patients. And fevers were noticed in some patients during encephalitic episodes, usually with increasing leukocyte counts and neutrophil ratios. Both IL-6 (p = 0.019) and TNF-α (p = 0.027) levels were significantly higher in the NIID group than in normal controls.
conclusionGenetic testing of NOTCH2NLC may be the best choice in the diagnosis of NIID. Inflammation might be involved in the pathogenesis of NIID.
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