Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51222
Abstract: We appreciate Li and colleagues’ interest in our work which did not identify associated NOTCH2NLC CGG expansion after screening a large pathologically confirmed cohort of European neuronal intranuclear inclusion disease (NIID) and additional cases with… read more here.
Keywords: genetic heterogeneity; heterogeneity; inclusion disease; intranuclear inclusion ... See more keywords
A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Sciences"
DOI: 10.1007/s10072-019-03986-1
Abstract: Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder characterized by eosinophilic hyaline intranuclear inclusions presented in the central and peripheral nervous systems and in the visceral organs [1]. Recently, it has been… read more here.
Keywords: inclusion disease; recurrent vomiting; intranuclear inclusion; case ... See more keywords
Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease.
Sign Up to like & getrecommendations! Published in 2021 at "Acta neurologica Belgica"
DOI: 10.1007/s13760-021-01622-4
Abstract: Neuronal intranuclear inclusion disease (NIID) is a heterogeneous neurodegenerative disease with multiple clinical subtypes. Recent breakthroughs on neuroimaging, skin biopsy and genetic testing have facilitated the diagnosis. We aim to investigate the clinical characteristics of… read more here.
Keywords: niid patients; inclusion disease; intranuclear inclusion; disease ... See more keywords
Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
Sign Up to like & getrecommendations! Published in 2021 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2021.100348
Abstract: Oculopharyngodistal myopathy (OPDM) is a slowly progressive adult-onset muscle disease characterized by ptosis, ophthalmoparesis, dysphagia, and weakness of the facial, masseter, bulbar, and distal limbs muscles [1]. Ishiura et al. revealed that OPDM is caused… read more here.
Keywords: muscle; repeat; intranuclear inclusion; case ... See more keywords
Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit
Sign Up to like & getrecommendations! Published in 2021 at "Neuron"
DOI: 10.1016/j.neuron.2021.05.018
Abstract: In this issue of Neuron, Boivin et al. (2021) show that a polyglycine-expanded protein, uN2CpolyG, is translated from an expansion of GGC repeats in the 5' UTR of the NOTCH2NLC (Notch homolog 2 N-terminal-like C) gene,… read more here.
Keywords: protein; inclusion disease; intranuclear inclusion; polyglycine ... See more keywords
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlaa070
Abstract: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder categorized into 3 phenotypic variants: infantile, juvenile, and adult. Four recent reports have linked NIID to CGG expansions in the NOTCH2NLC gene in adult NIID… read more here.
Keywords: skin biopsy; inclusion disease; intranuclear inclusion; disease ... See more keywords
A long time radiological follow-up of neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000013544
Abstract: Rationale: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease identified with diffusion-weighted imaging (DWI) high-intensity signal in magnetic resonance imaging (MRI). The disappearance of the abnormal signal is extremely rare. Patient concerns: We… read more here.
Keywords: inclusion disease; intranuclear inclusion; disease; dwi high ... See more keywords
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15606
Abstract: Neuronal intranuclear inclusion disease (NIID) is associated with CGG repeat expansion in the NOTCH2NLC gene. Although pure or dominant peripheral neuropathy has been described as a subtype of NIID in a few patients, most NIID… read more here.
Keywords: neuronal intranuclear; subclinical peripheral; peripheral neuropathy; intranuclear inclusion ... See more keywords
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy
Sign Up to like & getrecommendations! Published in 2021 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12787
Abstract: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). Neuronal intranuclear inclusion disease (NIID) is clinically distinct from OPDM but is also caused by the… read more here.
Keywords: inclusion disease; inclusion; intranuclear inclusions; neuronal intranuclear ... See more keywords
Over 10 years MRI observation of a patient with neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2016-218790
Abstract: We present a sporadic neuronal intranuclear inclusion disease (NIID) patient with neuropathy followed by cognitive dysfunction along with brain MRIs findings of leucoencephalopathy. Her cognitive impairment gradually progressed along with abnormal intensity lesions in diffusion-weighted… read more here.
Keywords: years mri; neuronal intranuclear; inclusion disease; intranuclear inclusion ... See more keywords
Neuronal intranuclear inclusion disease
Sign Up to like & getrecommendations! Published in 2023 at "Practical Neurology"
DOI: 10.1136/pn-2022-003582
Abstract: Neuronal intranuclear inclusion disease is a rare genetic condition, previously diagnosed only at postmortem, but its characteristic radiological features now allow its diagnosis in life. The clinical presentation is variable and we hope this case… read more here.
Keywords: intranuclear inclusion; inclusion disease; neuronal intranuclear; neurology ... See more keywords