Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.

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Tytuł:: Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.
Autorzy:: Hong D; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.; Department of Medical Genetics, First Affiliated Hospital of Nanchang University, Nanchang, China.
Wang H; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Zhu M; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.; Department of Medical Genetics, First Affiliated Hospital of Nanchang University, Nanchang, China.
Peng Y; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.; Department of Medical Genetics, First Affiliated Hospital of Nanchang University, Nanchang, China.
Huang P; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.
Zheng Y; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.
Yu M; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Meng L; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Li F; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Yu J; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Zhou M; Department of Neurology, First Affiliated Hospital of Nanchang University, Nanchang, China.
Deng J; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Źródło:: European journal of neurology [Eur J Neurol] 2023 Feb; Vol. 30 (2), pp. 527-537. Date of Electronic Publication: 2022 Nov 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: <2014- > : Oxford : Wiley
Original Publication: Oxford ; New York : Rapid Communications, [1994-
MeSH Terms:: Neurodegenerative Diseases*/complications
Neurodegenerative Diseases*/genetics
Brain Diseases*
Peripheral Nervous System Diseases*/genetics
Peripheral Nervous System Diseases*/pathology
Humans ; Intranuclear Inclusion Bodies/genetics ; Intranuclear Inclusion Bodies/pathology
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Contributed Indexing:: Keywords: NOTCH2NLC; NOTCH2NLC-related repeat expansion disorders (NREDs); nerve conduction study; neuronal intranuclear inclusion disease (NIID); peripheral neuropathy
SCR Disease Name:: Neuronal intranuclear inclusion disease
Entry Date(s):: Date Created: 20221020 Date Completed: 20230106 Latest Revision: 20230323
Update Code:: 20240105
DOI:: 10.1111/ene.15606
PMID:: 36263606
: Czasopismo naukowe

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Background and Purpose: Neuronal intranuclear inclusion disease (NIID) is associated with CGG repeat expansion in the NOTCH2NLC gene. 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.
Methods: Twenty-eight NIID patients, clinically characterized by CNS-dominant 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-primed polymerase chain reaction and amplicon length polymerase chain reaction were used to screen the CGG repeat expansion in NOTCH2NLC.
Results: 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-dominant 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.
Conclusions: This study demonstrated that most patients with CNS-dominant NIID had subclinical peripheral neuropathy. Electrophysiological examination should be the routinely diagnostic workflow for every NIID patient.
(© 2022 European Academy of Neurology.)

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