scholarly journals Urodynamic Assessment of Neuronal Intranuclear Inclusion Disease

2020 ◽  
Vol 83 (3) ◽  
pp. 312-316
Author(s):  
Yosuke Aiba ◽  
Ryuji Sakakibara ◽  
Fang-Ching Lee ◽  
Fuyuki Tateno
Keyword(s):  
Peripheral Neuropathy ◽  
Detrusor Overactivity ◽  
Bladder Dysfunction ◽  
Intranuclear Inclusion ◽  
Urodynamic Assessment ◽  
Bladder Sensation ◽  
Neuronal Intranuclear Inclusion ◽  
Variable Manifestation

Neuronal intranuclear inclusion disease (NIID) is a disease that causes leukoencephalopathy (dementia) and peripheral neuropathy (variable manifestation including bladder dysfunction). This is the first urodynamic report to show that bladder dysfunction in NIID is a combination of detrusor overactivity, decreased bladder sensation, large post-void residual, and neurogenic changes in the sphincter electromyogram. This report will help managing bladder dysfunction in NIID.

1527: Can Detrusor Overactivity Affects Bladder Sensation During Repeated Filling Cystometry?

2007 ◽  
Vol 177 (4S) ◽  
pp. 504-504
Author(s):  
Woon Tsang ◽  
John O'Donoghue ◽  
James Moore ◽  
Anup Yadav ◽  
Bridget Harris ◽  
...  
Keyword(s):  
Detrusor Overactivity ◽  
Bladder Sensation

scholarly journals Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Atsuhiko Sugiyama ◽  
Takahiro Takeda ◽  
Mizuho Koide ◽  
Hajime Yokota ◽  
Hiroki Mukai ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Repeat Expansion ◽  
Cerebellar Hemisphere ◽  
Intranuclear Inclusions ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Lateral Sclerosis

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as well as central, peripheral, and autonomic nervous system cells. Recently, a GGC repeat expansion in the NOTCH2NLC gene has been identified as the etiopathological agent of NIID. Interestingly, this GGC repeat expansion was also reported in some patients with a clinical diagnosis of amyotrophic lateral sclerosis (ALS). However, there are no autopsy-confirmed cases of concurrent NIID and ALS. Case presentation A 60-year-old Taiwanese woman reported a four-month history of progressive weakness beginning in the right foot that spread to all four extremities. She was diagnosed with ALS because she met the revised El Escorial diagnostic criteria for definite ALS with upper and lower motor neuron involvement in the cervical, thoracic, and lumbosacral regions. She died of respiratory failure at 22 months from ALS onset, at the age of 62 years. Brain magnetic resonance imaging (MRI) revealed lesions in the medial part of the cerebellar hemisphere, right beside the vermis (paravermal lesions). The subclinical neuropathy, indicated by a nerve conduction study (NCS), prompted a potential diagnosis of NIID. Antemortem skin biopsy and autopsy confirmed the coexistence of pathology consistent with both ALS and NIID. We observed neither eccentric distribution of p62-positive intranuclear inclusions in the areas with abundant large motor neurons nor cytopathological coexistence of ALS and NIID pathology in motor neurons. This finding suggested that ALS and NIID developed independently in this patient. Conclusions We describe a case of concurrent NIID and ALS discovered during an autopsy. Abnormal brain MRI findings, including paravermal lesions, could indicate the coexistence of NIID even in patients with ALS showing characteristic clinical phenotypes.

Familial neuronal intranuclear inclusion disease complicated by subcortical hemorrhage

2019 ◽  
Vol 7 (3) ◽  
pp. 136-138 ◽  
Author(s):  
Akihiko Mitsutake ◽  
Tomohisa Tamai ◽  
Aya Kamisawa ◽  
Yusuke Sugiyama ◽  
Tatsuya Sato ◽  
...  
Keyword(s):  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion

Injection of botulinum toxin (BTX-A) in children with bladder dysfunction due to detrusor overactivity

2011 ◽  
Vol 35 (2) ◽  
pp. 89-92 ◽  
Author(s):  
R.M. Romero ◽  
S. Rivas ◽  
A. Parente ◽  
M. Fanjul ◽  
J.M. Angulo
Keyword(s):  
Botulinum Toxin ◽  
Detrusor Overactivity ◽  
Bladder Dysfunction

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 A case of neuronal intranuclear inclusion disease associated with lupus nephritis–like nephropathy

2018 ◽  
Vol 10 ◽  
pp. 28-30 ◽  
Author(s):  
Taro Horino ◽  
Tatsuki Matsumoto ◽  
Kosuke Inoue ◽  
Osamu Ichii ◽  
Yoshio Terada
Keyword(s):  
Lupus Nephritis ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion
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