Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy

Aiba, Yosuke; Sakakibara, Ryuji; Abe, Fumihito; Higuchi, Tetsuya; Tokuyama, Wataru; Hiruta, Nobuyuki; Tateno, Fuyuki; Tsuyusaki, Yohei; Kusumoto, Masahiko; Tateno, Hiromi; Ogata, Tsuyoshi

doi:10.1016/j.jns.2016.07.042

Cited by 7 publications

(5 citation statements)

References 5 publications

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“…Of the diagnosis of the 50 cases with NIID reviewed, 20 were confirmed by skin biopsy, 15 by autopsy, 10 by rectal biopsy, 1 by colon biopsy, 1 by both the skin and the rectal biopsy, and 3 reports made no mention of the pathology (Table ) . There were 31 patients with MRI records, including 23 patients with brain atrophy (23/31, 74.19%).…”

Section: Resultsmentioning

confidence: 99%

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Wang

Nie

et al. 2019

Headache

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Background.-Neuronal intranuclear inclusion disease (NIID) is considered a heterogeneous disease because of its highly variable clinical manifestations. To date, there are no reports of NIID patients presenting with hemiplegic migraine (HM)-like headache, or of HM and NIID co-occurring as comorbidity, and the connection between these 2 seemingly unrelated clinical conditions has yet to be established.Method.-We present a patient with NIID who was previously diagnosed with HM. To determine the pathogenesis of HM in this NIID patient, we systematically reviewed published NIID and HM cases and cataloged them based on their clinical manifestations.Result.-The clinical manifestations of NIID is highly various; however, there is no case reported to date that shows HMlike symptoms or cerebral edema. All documented symptomatic HM cases show vascular dysfunction to various degrees, but none of them has been shown to be correlated with NIID. Conclusion.-Our patient is the first documented case in which HM and NIID occur simultaneously. Vascular dysfunctions that cause cerebral hypoperfusion and glucose hypometabolism, two of the dominant causes of symptomatic HM, may be associated with the accumulation of eosinophilic hyaline inclusions that cause NIID. However, the existence of inclusions may also alter neuronal behavior and indirectly cause cerebral hypoperfusion and glucose hypometabolism. Further research andobservations are needed to examine the relationship between HM and NIID. Key words: hemiplegic migraine, sporadic hemiplegic migraine, neuronal intranuclear inclusion disease Abbreviations: CNS central nervous system, CSF cerebrospinal fluid, CT computed tomography, DWI diffusion-weighted imaging, EEG electroencephalography, FHM familial hemiplegic migraine, HM hemiplegic migraine, ICHD International Classification of Headache Disorders, MRA magnetic resonance angiography, MRI magnetic resonance imaging, NIID neuronal intranuclear inclusion disease, PET positron emission tomography, PWI perfusion-weighted imaging, SHM sporadic hemiplegic migraine, SWI susceptibility weighted imaging (Headache 2020;60:382-395) Headache

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Section: Resultsmentioning

confidence: 99%

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Wang

Nie

et al. 2019

Headache

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Section: Discussionmentioning

confidence: 99%

“…In most previous reported cases, only the diagnosis was suspected for the patients with neurological symptoms and neuroimaging, skin biopsy was considered to perform for the pathological support. 2,3,12 Skin biopsy was regarded a useful diagnostic tool for NIID and the deposits of intranuclear inclusion in skin was a diagnostic hallmark for NIID. 2 However, our cases and other reports also showed that the presence of intranuclear inclusion in skin was later than that in other systems such as kidney and bladder or the occurrence of neurological symptoms 10,13,14 ; indicating that positive skin involvement is not necessary for the early diagnosis of NIID.…”

Section: Time Sequence Of the Affected System Symptoms In Niidmentioning

confidence: 99%

Re‐defining the clinicopathological spectrum of neuronal intranuclear inclusion disease

Chen¹,

Wang

et al. 2020

Ann Clin Transl Neurol

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Background: The rapidly increasing case reports revealed that neuronal intranuclear inclusion disease (NIID) had concomitant other system symptoms besides nervous system symptoms. In this study, we systematically evaluated the symptoms, signs, auxiliary examination, and pathological changes in different systems in NIID patients. Methods: NIID patients were confirmed by examining GGC repeats in the NOTCH2NLC gene. Clinical data of NIID patients including symptoms, signs, and auxiliary examinations were collected for analysis. Ubiquitin and p62 were detected in different tissues from previous surgical samples. Results: Fifty-one NIID patients from 17 families were included in this study. Except neurological symptoms, clinical manifestations from other systems were very notable and diverse. The proportions of different system symptoms were 88.2% in nervous system, 78.4% in respiratory system, 72.5% in circulatory system, 72.5% in locomotor system, 66.7% in urinary system, 64.7% in digestive system, 61.5% in reproductive system, and 50.0% in endocrine system. In addition, other common symptoms included sexual dysfunction (43.1%), pupil constriction (56.9%), blurred vision (51.0%), and hearing loss (23.5%). Ubiquitin and p62-positive cells were found in different tissues and systems in 24 NIID patients with previous surgery. Initial symptoms of NIID and median onset age in different systems also revealed system heterogeneity of NIID. Interpretation: For the first time, we systematically demonstrated that NIID is a heterogeneous and systemic neurodegenerative disease by providing clinical and pathological evidence. In addition to the nervous system, the clinical symptomatic and pathological spectrum of NIID has been extended to almost all systems.

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“…Eosinophilic p62/ubiquitin-positive intranuclear inclusions in neurons and other somatic cells can be observed under light microscope, and dense membraneless filamentous substances can be seen under electron microscopy ( 2 ). Moreover, high signal intensity in the corticomedullary junction on DWI is characteristic of NIID ( 3 ). According to the age of onset, NIID can be classified into infantile, juvenile, and adult forms.…”

Section: Discussionmentioning

confidence: 99%

Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report

et al. 2023

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BackgroundNeuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease that can affect the nervous and other systems of the body. Its clinical manifestations are complex and easily misdiagnosed. Adult-onset NIID beginning with autonomic symptoms such as recurrent hypotension, profuse sweating, and syncope has not been reported.Case presentationAn 81-year-old male was admitted to the hospital in June 2018 due to repeated episodes of hypotension, profuse sweating, pale complexion, and syncope for 3 years, and progressive dementia for 2 years. DWI was not possible due to the presence of metal residues in the body. Cutaneous histopathology revealed sweat gland cell nuclear inclusions and immunohistochemistry showed p62 nuclear immunoreactivity. Blood RP-PCR identified an abnormal GGC repeat expansion in the 5′UTR of the NOTCH2NLC gene. Accordingly, this case was diagnosed as adult-onset NIID in August 2018. The patient subsequently received vitamin C nutritional support, rehydration, and other vital signs maintenance treatments during hospitalization, but the above symptoms still recurred after discharge. With the development of the disease, lower extremity weakness, slow movement, dementia, repeated constipation, and vomiting appeared successively. In April 2019, he was hospitalized again for severe pneumonia, and died of multiple organ failure in June 2019.ConclusionThe presented case exemplifies great clinical heterogeneity of NIID. Some patients may have neurological symptoms and other systemic symptoms simultaneously. This patient started with autonomic symptoms, including recurrent episodes of hypotension, profuse sweating, pallor, and syncope, which progressed rapidly. This case report provides new information for the diagnosis of NIID.

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Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy

Cited by 7 publications

References 5 publications

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Re‐defining the clinicopathological spectrum of neuronal intranuclear inclusion disease

Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report

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