An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy

Yamaguchi, Nanaka; Mano, Tatsuo; Ohtomo, Ryo; Ishiura, Hiroyuki; Almansour, Mohammad; Mori, Hiromu; Kanda, Junko; Shirota, Yasuhiko; Taira, Kenichiro; Morikawa, Teppei; Ikemura, Masako; Yanagi, Yasuo; Murayama, Shigeo; Shimizu, Jun; Sakurai, Yasuhisa; Tsuji, Shoji; Iwata, Atsushi

doi:10.2169/internalmedicine.1141-18

Cited by 23 publications

(22 citation statements)

References 10 publications

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“…Similarity has been found in the MRI findings between NIID and FXTAS and the presence of eosinophilic intranuclear inclusions [21,31,35].It is found that NIID shares a common molecular basis with FXTAS-a disease caused by mildly expanded CGG repeats (premutation) in the 5′ untranslated region (UTR) of FMR1, with 55-200 repeat units. [11] By TRhist technique [40] recently few researchers found accumulation of short reads filled with CGG repeats in the 5′ UTR of NBPF19 (NOTCH2NLC) in NIID.…”

Section: Neuronal Intranuclear Inclusion Disease (Niid)supporting

confidence: 69%

“…NIID is a neurodegenerative disease characterized clinically by various combinations of cognitive decline, parkinsonism, cerebellar ataxia and peripheral neuropathy, and neuropathologically by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems as well as in other tissues including cardiovascular, digestive and urogenital organs [29,30,31,32] and age of onset usually ranges from infancy to late adulthood. An autosomal dominant mode of inheritance has been thought [33,34,35] of previously but about two thirds of cases have been reported to be sporadic in nature [31].…”

Section: Neuronal Intranuclear Inclusion Disease (Niid)mentioning

confidence: 99%

“…Recent advances include characteristic magnetic resonance imaging (MRI) findings, including high-intensity signals in diffusion-weighted imaging (DWI) in the corticomedullary junction and eosinophilic intranuclear inclusions in skin biopsy, has been described as useful diagnostic hallmarks for NIID [36,37]. Recently lot of late adult onset NIID cases has been reported from japan and china which gives us more insight about repeat expansion spectrum [4,31,35,38,39].…”

Section: Neuronal Intranuclear Inclusion Disease (Niid)mentioning

confidence: 99%

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Non Coding CGG Repeat Expansion Diseases: An Update

2019

ARC Journal of Neuroscience

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In recent years neurological disorders specifically neurodegenerative diseases have been recognised worldwide and has been diagnosed more and more by clinicians with the ever improving genetic techniques and is currently considered a leading cause of disability and death right from young to elderly age and might surpass the diagnosis of cancer in future as predicted by World Health Organization(WHO).This type of disorders are common in both high-and low-income countries and it is only predicted to increase as time goes by. Expanded trinucleotide repeats are GGGGGC, CAG, CGG, CCG, CTG, CUG, GAA, and GCN etc in the genome are considered to cause major neurodegenerative diseases in general population. Pathogenesis is different for different repeats however time of onset of the disease and severity will depend on trinucleotide repeat number. So, these type of disease comes under category of Trinucleotide repeat expansion disorders (TREDs). Here in this article we further update about the disease spectrum caused by CGG repeat expansion. Founder haplotypes and haploinsufficiency have been identified recently and its analysis in families may reveal a shared haplotype. Attention should be paid not only to familial cases but also to sporadic cases presenting with similar clinical features otherwise the diagnosis can be missed in early stages.

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Section: Neuronal Intranuclear Inclusion Disease (Niid)supporting

confidence: 69%

Section: Neuronal Intranuclear Inclusion Disease (Niid)mentioning

confidence: 99%

Section: Neuronal Intranuclear Inclusion Disease (Niid)mentioning

confidence: 99%

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Non Coding CGG Repeat Expansion Diseases: An Update

2019

ARC Journal of Neuroscience

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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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“…NIID is also known to have several ophthalmologic manifestations, such as miosis, night blindness, and reduced electroretinographic (ERG) responses, and retinal degenerative changes with onset at various ages. 11 – 15 Adult-onset NIID is often accompanied by miosis, and part of infantile- or juvenile-onset NIID is reported to be associated with nystagmus and eye movement disorders. 11 Although there are few reports on the retinal findings including the ERG findings, ERG abnormalities have been reported in all age groups.…”

mentioning

confidence: 99%

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

Nakamura

Tsunoda

Mitsutake

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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Purpose To report the ocular characteristics of neuronal intranuclear inclusion disease (NIID)–related retinopathy with expansion of the CGG repeats in the NOTCH2NLC gene. Methods Seven patients from six families (aged 66–81 years) diagnosed with adult-onset NIID were studied. Ophthalmologic examinations, including the best-corrected visual acuity (BCVA), Goldmann perimetry, fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), and full-field electroretinography (ERGs), were performed. The expansion of the CGG repeats in the NOTCH2NLC gene was determined. Results All patients had an expansion of the CGG repeats (length approximately from 330–520 bp) in the NOTCH2NLC gene. The most common symptoms of the five symptomatic cases were reduced BCVA and night blindness. The other two cases did not have any ocular symptoms. The decimal BCVA varied from 0.15 to 1.2. Goldmann perimetry was constricted in all four cases tested; physiological blind spot was enlarged in two of the cases. The FAF images showed an absence of autofluorescence (AF) around the optic disc in all cases and also showed mild hypo-AF or extinguished AF in the midperiphery. In all cases, the OCT images showed an absence of the ellipsoid zone of the photoreceptors in the peripapillary region, and hyperreflective dots were also present between the retinal ganglion cell layer and outer nuclear layer. The macular region was involved in the late stage of the retinopathy. The full-field ERGs showed rod-cone dysfunction. Conclusions Patients with adult-onset NIID with CGG repeats expansions in the NOTCH2NLC gene had similar ophthalmologic features, including rod-cone dysfunction with progressive retinal degeneration in the peripapillary and midperipheral regions. The primary site is most likely the photoreceptors. Because the ocular symptoms are often overlooked due to dementia and occasionally precede the onset of dementia, detailed ophthalmological examinations are important for the early diagnosis of NIID-related retinopathy.

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An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy

Cited by 23 publications

References 10 publications

Non Coding CGG Repeat Expansion Diseases: An Update

Non Coding CGG Repeat Expansion Diseases: An Update

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

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