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
Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6013
Abstract: A 31‐year‐old woman at 32 weeks of gestation was referred to our hospital for polyhydramnios and fetal small bowel dilatation (Movie S1). The stomach was normal in size and location (Figure 1). Amniotic fluid electrolytes… read more here.
Keywords: findings postpartum; ultrasound findings; prenatal ultrasound; microvillus 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
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
Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-lined Inclusions and Alterations in Sodium Transporters.
Sign Up to like & getrecommendations! Published in 2020 at "Gastroenterology"
DOI: 10.1053/j.gastro.2020.02.034
Abstract: BACKGROUND & AIMS Microvillus inclusion disease (MVID) is caused by inactivating mutations in the myosin VB gene (MYO5B). MVID is a complex disorder characterized by chronic, watery, life-threatening diarrhea that usually begins in the first… read more here.
Keywords: microvillus inclusion; inclusion disease; disease; myosin gene ... See more keywords
Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Gastroenterology"
DOI: 10.1053/j.gastro.2020.06.008
Abstract: BACKGROUND & AIM Myosin VB (MYO5B) is an essential trafficking protein for membrane recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the congenital diarrheal disease, microvillus inclusion disease (MVID). MYO5B deficiency in… read more here.
Keywords: microvillus inclusion; inclusion disease; mice; myo5b ... 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
P4.37: Extra-Intestinal Manifestations of Children with Genetically Confirmed Microvillus Inclusion Disease
Sign Up to like & getrecommendations! Published in 2019 at "Transplantation"
DOI: 10.1097/01.tp.0000576412.14263.ff
Abstract: Objectives: Microvillous inclusion disease (MVID): congenital disorder caused by MYO5B or STX3 mutations. Pathognomonic features are severe intractable diarrhoea and malabsorption due to intestinal brush border atrophy, accumulation of lysosomal granules and microvillus inclusions in… read more here.
Keywords: inclusion; genetics; inclusion disease; extra intestinal ... See more keywords
A long time radiological follow-up of neuronal intranuclear inclusion disease
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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