scholarly journals NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome

Brain ◽  
2020 ◽  
Vol 143 (8) ◽  
pp. e69-e69
Author(s):  
Adeline S L Ng ◽  
Zheyu Xu ◽  
Zhiyong Chen ◽  
Yi Jayne Tan ◽  
Weng Khong Lim ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Fragile X ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Inclusion Body Disease ◽  
Ataxia Syndrome

scholarly journals Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan

2021 ◽  
Author(s):  
Yujiro Higuchi ◽  
Masahiro Ando ◽  
Akiko Yoshimura ◽  
Satoshi Hakotani ◽  
Yuki Koba ◽  
...  
Keyword(s):  
Multiple System Atrophy ◽  
Cerebellar Ataxia ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Japanese Patients ◽  
High Signal ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Male Patients ◽  
Ataxia Syndrome

AbstractThe presence of fragile X mental retardation 1 (FMR1) premutation has been linked to patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia syndrome (FXTAS). However, its prevalence in Japan has yet to be clarified. The aim of the present study is to determine the prevalence of FXTAS in Japanese patients with cerebellar ataxia and to describe their clinical characteristics. DNA samples were collected from 1328 Japanese patients with cerebellar ataxia, referred for genetic diagnosis. Among them, 995 patients with negative results for the most common spinocerebellar ataxia subtypes were screened for FMR1 premutation. Comprehensive clinical and radiological analyses were performed for the patients harbouring FMR1 premutation. We herein identified FMR1 premutation from one female and two male patients, who satisfied both clinical and radiological criteria of FXTAS (0.3%; 3/995) as well. Both male patients presented with high signal intensity of corticomedullary junction on diffusion-weighted magnetic resonance imaging, a finding comparable to that of neuronal intranuclear inclusion disease. The female patient mimicked multiple system atrophy in the early stages of her disease and developed aseptic meningitis with a suspected immune-mediated mechanism after the onset of FXTAS, which made her unique. Despite the lower prevalence rate in Japan than the previous reports in other countries, the present study emphasises the necessity to consider FXTAS with undiagnosed ataxia, regardless of men or women, particularly for those cases presenting with similar clinical and radiological findings with multiple system atrophy or neuronal intranuclear inclusion disease.

scholarly journals MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X–Associated Tremor/Ataxia Syndrome

2018 ◽  
Vol 39 (9) ◽  
pp. E100-E101 ◽  
Author(s):  
I.G. Padilha ◽  
R.H. Nunes ◽  
F.A. Scortegagna ◽  
J.L. Pedroso ◽  
V.H. Marussi ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Fragile X ◽  
Imaging Features ◽  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Ataxia Syndrome

scholarly journals FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Megumi Toko ◽  
Tomohiko Ohshita ◽  
Takashi Kurashige ◽  
Hiroyuki Morino ◽  
Kodai Kume ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Skin Biopsy ◽  
Trinucleotide Repeat ◽  
Late Onset ◽  
Fragile X ◽  
Brain Mri ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Cerebellar Peduncle ◽  
Ataxia Syndrome

Abstract Background Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the similarity in their clinical and radiological features. It is unclear that skin biopsy can distinguish NIID from FXTAS. We performed a skin biopsy in an FXTAS case with cognitive dysfunction and peripheral neuropathy without tremor, which was initially suspected to be NIID. Case presentation The patient underwent neurological assessment and examinations, including laboratory tests, electrophysiologic test, imaging, skin biopsy, and genetic test. A brain MRI showed hyperintensity lesions along the corticomedullary junction on diffusion-weighted imaging (DWI) in addition to middle cerebellar peduncle sign (MCP sign). We suspected NIID from the clinical picture and the radiological findings, and performed a skin biopsy. The skin biopsy specimen showed ubiquitin- and p62-positive intranuclear inclusions, suggesting NIID. However, a genetic analysis for NIID using repeat-primed polymerase chain reaction (RP-PCR) revealed no expansion detected in the Notch 2 N-terminal like C (NOTCH2NLC) gene. We then performed genetic analysis for FXTAS using RP-PCR, which revealed a repeat CGG/GGC expansion in the FMRP translational regulator 1 (FMR1) gene. The number of repeats was 83. We finally diagnosed the patient with FXTAS rather than NIID. Conclusions For the differential diagnosis of FXTAS and NIID, a skin biopsy alone is insufficient; instead, genetic analysis, is essential. Further investigations in additional cases based on genetic analysis are needed to elucidate the clinical and pathological differences between FXTAS and NIID.

scholarly journals Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease

2020 ◽  
Vol 79 (12) ◽  
pp. 1293-1302
Author(s):  
Shugang Zhang ◽  
Qixing Gong ◽  
Di Wu ◽  
Yun Tian ◽  
Lu Shen ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Fragile X ◽  
Cerebrovascular Diseases ◽  
Pathological Examination ◽  
Positive Staining ◽  
Intranuclear Inclusion ◽  
Cgg Repeats ◽  
Genetic Features ◽  
Neuronal Intranuclear Inclusion ◽  
Ataxia Syndrome

Abstract Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder. This study aimed to investigate clinical, imaging, genetic, and dermatopathological characteristics of a family with adult-onset NIID. The proband was a 62-year-old woman with 3 brothers and 2 sisters. Of these, 4 had symptoms of paroxysmal visual field defect, extrapyramidal symptoms, dysautonomia, emotional changes, and cognitive dysfunction. Genetic examination revealed no abnormality related to cerebrovascular diseases. More than 200 CGG repeats of FMR1 gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) whereas repeats of the proband were found 29 times, which excluded FXTAS. Quantitative reverse transcription polymerase chain reaction (PCR) and GC-rich-PCR identified an expanded GGC repeat (with ∼100 repeats) in the 5′ region of NOTCH2NLC in the patient and her 2 younger brothers. Pathological examination found eosinophilic intranuclear inclusions inside adipocytes, fibrocytes, and sweat gland cells. Immunohistochemistry and immunofluorescence staining revealed positive staining for ubiquitin and p62. The detailed pathological and genetic features of this NIID family provide a valuable contribution to the existing knowledge base of this rare disorder.

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

2020 ◽  
Vol 74 ◽  
pp. 25-27
Author(s):  
Shen-Yang Lim ◽  
Hiroyuki Ishiura ◽  
Norlisah Ramli ◽  
Shota Shibata ◽  
M. Asem Almansour ◽  
...  
Keyword(s):  
Fragile X ◽  
Chinese Patients ◽  
Adult Onset ◽  
Intranuclear Inclusion ◽  
Ethnic Chinese ◽  
Neuronal Intranuclear Inclusion ◽  
Ataxia Syndrome

Brain Dopamine and Other Neurotransmitters in Neuronal Intranuclear Inclusion Body Disorder

1986 ◽  
pp. 477-478
Author(s):  
S. J. Kish ◽  
J. J. Gilbert ◽  
L. J. Chang ◽  
L. M. Mirchandani ◽  
K. S. Shannak ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Brain Dopamine ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion

Valosin-containing protein immunoreactivity in tauopathies, synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease

2013 ◽  
Vol 33 (6) ◽  
pp. 637-644 ◽  
Author(s):  
Fumiaki Mori ◽  
Kunikazu Tanji ◽  
Yasuko Toyoshima ◽  
Hidenao Sasaki ◽  
Mari Yoshida ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Polyglutamine Diseases ◽  
Intranuclear Inclusion ◽  
Inclusion Body Disease ◽  
Protein Immunoreactivity

Ubiquilin immunoreactivity in cytoplasmic and nuclear inclusions in synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease

2012 ◽  
Vol 124 (1) ◽  
pp. 149-151 ◽  
Author(s):  
Fumiaki Mori ◽  
Kunikazu Tanji ◽  
Saori Odagiri ◽  
Yasuko Toyoshima ◽  
Mari Yoshida ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Nuclear Inclusions ◽  
Polyglutamine Diseases ◽  
Intranuclear Inclusion ◽  
Inclusion Body Disease
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