Clinical and pathological features in adult-onset NIID patients with cortical enhancement

Liang, Huiting; Wang, Bo; Li, Qing; Deng, Jianwen; Wang, Lulu; Wang, Huan; Li, Xiaobin; Zhu, Min; Cai, Yu; Wang, Zhaoxia; Yuan, Yun; Pu, Fang; Hong, Daojun

doi:10.1007/s00415-020-09945-7

Cited by 46 publications

(49 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Wang described a juvenile NIID patient who developed probable migraine without aura, migraine with aura, and hemiplegic migraine before episodic encephalopathy [ 8 ]. Liang reported a 35-year-old female patient with NIID who presented with migraine with aura as an initial symptom [ 6 ]. These cases raise a question whether there is any linkage between the two disorders or just a coincidence.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

Zhao

Zhu

et al. 2021

BMC Neurol

Self Cite

View full text Add to dashboard Cite

Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder characterized by dementia, tremor, episodic encephalopathy and autonomic nervous dysfunction. To date, vestibular migraine (VM)-like attack has never been reported in cases with NIID. Here, we describe an 86-year-old patient with NIID who presented with recurrent vertigo associated with headache for more than 30 years. Case presentation An 86-year-old Chinese woman with vertigo, headache, weakness of limbs, fever, and disturbance of consciousness was admitted to our hospital. She had suffered from recurrent vertigo associated with headache since her 50 s,followed by essential tremor and dementia. On this admission, brain magnetic resonance imaging revealed high intensity signals along the corticomedullary junction on diffusion weighted imaging (DWI). Peripheral neuropathy of the extremities was detected through electrophysiological studies. We diagnosed NIID after detecting eosinophilic intranuclear inclusions in the ductal epithelial cells of sweat glands and identifying an abnormal expansion of 81 GGC repeats in the 5’UTR of NOTCH2NLC gene. Conclusions VM-like attack may be associated with NIID.

show abstract

Section: Discussionmentioning

confidence: 99%

“…2 ). Repeat-primed PCR (RP-PCR) and fluorescence amplicon length PCR (AL-PCR) were performed successively as described in previous study to identified 81 GGC repeats in the 5’-UTR [ 5 , 6 ] (Fig. 3 ).…”

Section: Case Reportmentioning

confidence: 99%

Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

Zhao

Zhu

et al. 2021

BMC Neurol

Self Cite

View full text Add to dashboard Cite

show abstract

“…Furthermore, the lesions appearing in the left hemisphere showed gadolinium enhancement, mimicking edematous disorders and pial AVF. 6 Although patients with NIID can manifest various clinical features, 7 our patient showed uncommon MR findings that made it difficult to diagnose her with NIID in the early stage. We should consider NIID as a differential diagnosis for undetermined etiology of encephalopathy syndrome in a patient with leukoencephalopathy, presenting cerebral hyperperfusion, even without typical DWI signals in the corticomedullary junction in the early stage.…”

Section: Discussionmentioning

confidence: 81%

Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging

et al. 2021

View full text Add to dashboard Cite

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disorder with a wide range of clinical manifestations, including dementia and peripheral neuropathy.1 NIID is pathologically characterized by eosinophilic hyaline intranuclear inclusions found in the central and peripheral nervous systems and various organs, including the skin,1,2 which enables the confirmation of a diagnosis by skin biopsy.2 High-intensity signals along the corticomedullary junction on diffusion-weighted imaging (DWI) and bilateral leukoencephalopathy are also specific features of NIID1 and extend as the disease progresses.1,3 However, the clinical and pathophysiologic significance of cerebral blood flow remains undetermined. In this study, we present the case of a patient with NIID exhibiting dynamic perfusion changes on arterial spin labeling (ASL) before typical subcortical DWI signals. The patient's clinical manifestations and radiologic changes are very unique and remarkable for NIID. Her diagnosis was confirmed by skin biopsy and genomic analysis.

show abstract

“…[1][2][3][4] NIID is a progressive degenerative disease with intricate clinical symptoms affecting multiple systems and pathological evidence of widespread eosinophilic intranuclear inclusions in a variety of organ tissues. [5][6][7][8][9][10][11] As neuroimaging abnormalities, 12 skin biopsy 13 and genetic analysis [1][2][3][4] became widely available for the diagnosis of NIID in recent years, the number of diagnosed NIID cases increased quickly. To date, GGC repeat expansion of NOTCH2NLC has been reported to not only be responsible for typical NIID, [1][2][3][4] but also associated with a group of NOTCH2NLC-related repeat expansion disorders (NRED).…”

Section: Introductionmentioning

confidence: 99%

“…Recently, GGC repeat expansion in the 5’untranslated region (5’UTR) of the NOTCH2NLC has been identified as the causative mutation of neuronal intranuclear inclusion disease (NIID) 1‐4 . NIID is a progressive degenerative disease with intricate clinical symptoms affecting multiple systems and pathological evidence of widespread eosinophilic intranuclear inclusions in a variety of organ tissues 5‐11 . As neuroimaging abnormalities, 12 skin biopsy 13 and genetic analysis 1‐4 became widely available for the diagnosis of NIID in recent years, the number of diagnosed NIID cases increased quickly.…”

Section: Introductionmentioning

confidence: 99%

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Luan

et al. 2021

Ann Clin Transl Neurol

Self Cite

View full text Add to dashboard Cite

Background: The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy. This study aimed to report patients with distal weakness with both neuropathic and myopathic features on electrophysiology and pathology who present GGC repeat expansions in the NOTCH2NLC. Methods: Whole-exome sequencing (WES) and long-read sequencing were implemented to identify the candidate genes. In addition, the available clinical data and the pathological changes associated with peripheral nerve and muscle biopsies were reviewed and studied. Results: We identified and validated GGC repeat expansions of NOTCH2NLC in three unrelated patients who presented with progressive weakness predominantly affecting distal lower limb muscles, following negative results in an initial WES. We found intranuclear inclusions with multiple proteins deposits in the nuclei of both myofibers and Schwann cells. The clinical features of these patients are compatible with the diagnosis of distal motor neuropathy and rimmed vacuolar myopathy. Interpretation: These phenotypes enrich the class of features associated with NOTCH2NLC-related repeat expansion disorders (NRED), and provide further evidence that the neurological symptoms of NRED include not only brain, spinal cord, and peripheral nerves damage, but also myopathy, and that overlapping symptoms might exist.

show abstract

Clinical and pathological features in adult-onset NIID patients with cortical enhancement

Cited by 46 publications

References 26 publications

Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Contact Info

Product

Resources

About