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Although pure or dominant peripheral neuropathy has been described as a subtype of NIID in a few patients, most NIID patients predominantly show involvements of the central nervous system (CNS). It is necessary to further explore whether these patients have subclinical peripheral neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010eight NIID patients, clinically characterized by CNS\u2010dominant involvements, were recruited from two tertiary hospitals. Standard nerve conduction studies were performed in all patients. Skin and sural nerve biopsies were performed in 28 and 15 patients, respectively. Repeat\u2010primed polymerase chain reaction and amplicon length polymerase chain reaction were used to screen the CGG repeat expansion in <jats:italic>NOTCH2NLC<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All 28 patients can be diagnosed with NIID based on skin pathological and genetic changes. All patients predominantly showed CNS symptoms mainly characterized by episodic encephalopathy and cognitive impairments, but no clinical symptoms of peripheral neuropathy could be observed initially. Electrophysiological abnormalities were found in 96.4% (27\/28) of these patients, indicating that subclinical peripheral neuropathy is common in NIID patients with CNS\u2010dominant type. Electrophysiological and neuropathological studies revealed that demyelinating degeneration was the main pathological pattern in these patients, although mild axonal degeneration was also observed in some patients. No significant association between CGG repeat size and the change of nerve conduction velocity was found in these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study demonstrated that most patients with CNS\u2010dominant NIID had subclinical peripheral neuropathy. Electrophysiological examination should be the routinely diagnostic workflow for every NIID patient.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15606","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T07:38:53Z","timestamp":1666251533000},"page":"527-537","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-3534","authenticated-orcid":false,"given":"Daojun","family":"Hong","sequence":"first","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Nanchang University  Nanchang China"},{"name":"Department of Medical Genetics First Affiliated Hospital of Nanchang University  Nanchang 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