☆ 4.5 Article

Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis

BRAIN SCIENCES (2023)

Related references

Note: Only part of the references are listed.

Review Neurosciences

The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review

Xiu-Rong Huang et al.

Summary: NOTCH2NLC-related GGC repeat expansion disorders encompass a range of neurological diseases, including dementia, Parkinson's disease, neuropathy, and essential tremor, highlighting the significance of understanding this type of repeat expansion disease.

MOLECULAR NEUROBIOLOGY (2022)

Add to Collection

Article Clinical Neurology

GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome

Wei Zhang et al.

Summary: The GGC repeat expansion in the 5' untranslated region of NOTCH2NLC gene is associated with a new phenotype of hereditary lower motor neuron syndrome. NOTCH2NLC genotyping should be performed to aid in the diagnosis of hereditary lower motor neuron syndromes.

JOURNAL OF NEUROLOGY (2022)

Add to Collection

Article Neurosciences

Case report: Adult-onset neuronal intranuclear inclusion disease with an amyotrophic lateral sclerosis phenotype

Masako Fujita et al.

Summary: Amyotrophic lateral sclerosis (ALS) and neuronal intranuclear inclusion disease (NIID) are two diseases that occur in adulthood and lead to progressive muscle weakness. Recent findings suggest a correlation between genetic variations associated with NIID and the pathogenesis of ALS. This study reports the autopsy findings of a patient clinically diagnosed with ALS who was found to have NIID. The findings suggest that a small proportion of NIID patients can manifest a clinical phenotype of ALS.

FRONTIERS IN NEUROSCIENCE (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Elevated Cerebrospinal Fluid Proteins and Albumin Determine a Poor Prognosis for Spinal Amyotrophic Lateral Sclerosis

Abdelilah Assialioui et al.

Summary: This study aimed to investigate the relationship between cerebrospinal fluid (CSF) proteins and albumin-quotient (QAlb) and the rate of disease progression in amyotrophic lateral sclerosis (ALS) patients. The study found that spinal ALS patients had an increased risk of death, and specific values of CSF proteins and albumin were associated with prognosis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Review Medicine, General & Internal

Amyotrophic lateral sclerosis

Eva L. Feldman et al.

Summary: Amyotrophic lateral sclerosis, a fatal CNS neurodegenerative disease, lacks optimal management strategies. Improved understanding of clinical presentation, pathophysiology, and diagnostic criteria has not yet translated into direct patient benefit. However, the concept of amyotrophic lateral sclerosis as a complex syndrome is already influencing clinical practice.

LANCET (2022)

Add to Collection

Article Clinical Neurology

NOTCH2NLCIntermediate-Length Repeat Expansions Are Associated with Parkinson Disease

Chang-he Shi et al.

Summary: This study examined GGC repeat expansions in 1,011 Parkinson's disease patients and found 11 patients with intermediate-length repeat expansions, suggesting a potential association between these expansions and Parkinson's disease.

ANNALS OF NEUROLOGY (2021)

Add to Collection

Article Clinical Neurology

Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases

Shaoping Zhong et al.

Summary: NIID is a neurodegenerative disease characterized by widespread inclusions, and recent research has identified a GGC repeat expansion in the 5'UTR of NOTCH2NLC gene associated with the disease. This expansion triggers the translation of a polyglycine protein, N2NLCpolyG, which tends to aggregate and impair nuclear lamina and nucleocytoplasmic transport without causing immediate neuronal cell death. These findings suggest a similarity in pathogenic mechanisms between NIID and other GGC-repeat diseases.

ACTA NEUROPATHOLOGICA (2021)

Add to Collection

Letter Clinical Neurology

NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent

Wai Yan Yau et al.

ANNALS OF NEUROLOGY (2021)

Add to Collection

Review Genetics & Heredity

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Christel Depienne et al.

Summary: Tandem repeats, a common variation in human genomes, can lead to disorders affecting the central nervous system. While some disorders have been identified, there are still many more to be discovered, and long-read technologies offer a new opportunity for studying these diseases.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Add to Collection

Article Neurosciences

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Manon Boivin et al.

Summary: NIID is a neurodegenerative disease caused by GGC repeat expansion in the NOTCH2NLC gene, leading to translation of a polyglycine-containing protein uN2CpolyG and formation of intranuclear inclusions. Accumulation of uN2CpolyG results in neuronal cell loss and premature death in animal models.

NEURON (2021)

Add to Collection

Article Geriatrics & Gerontology

Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis

Kang-Yang Jih et al.

Summary: Screening of ALS patients and healthy controls did not reveal the presence of NOTCH2NLC GGC repeat expansion in Taiwanese ALS patients. The distribution of GGC repeat sizes did not differ significantly between the two groups.

NEUROBIOLOGY OF AGING (2021)

Add to Collection

Review Clinical Neurology

NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders

Lanxiao Cao et al.

Summary: Mutations in the NOTCH2NLC gene 5' UTR region GGC repeat expansion have been identified as a genetic contributor to neuronal intranuclear inclusion disease (NIID) and other progressive neurological disorders. The underlying pathogenic mechanism of this mutation in these diseases remains largely unknown and requires further research.

NEUROLOGICAL SCIENCES (2021)

Add to Collection

Article Geriatrics & Gerontology

Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias

Bin Jiao et al.

NEUROBIOLOGY OF AGING (2020)

Add to Collection

Editorial Material Clinical Neurology

A proposal for new diagnostic criteria for ALSY

Jeremy M. Shefner et al.

CLINICAL NEUROPHYSIOLOGY (2020)

Add to Collection

Article Clinical Neurology

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

Yanchun Yuan et al.

NEUROLOGY (2020)

Add to Collection

Article Clinical Neurology

Association of NOTCH2NLC Repeat Expansions With Parkinson Disease

Dongrui Ma et al.

JAMA NEUROLOGY (2020)

Add to Collection

Article Clinical Neurology

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Christopher P. Cali et al.

ACTA NEUROPATHOLOGICA (2019)

Add to Collection

Article Genetics & Heredity

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Yun Tian et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Add to Collection

Article Genetics & Heredity

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone et al.

NATURE GENETICS (2019)

Add to Collection

Article Genetics & Heredity

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura et al.

NATURE GENETICS (2019)

Add to Collection

Article Neurosciences

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

Alfredo Iacoangeli et al.

ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)

Add to Collection

Article Clinical Neurology

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy

Masaki Okubo et al.

ANNALS OF NEUROLOGY (2019)

Add to Collection

Article Biochemistry & Molecular Biology

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation

Ikuo K. Suzuki et al.

CELL (2018)

Add to Collection

Review Clinical Neurology

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

Ruth Chia et al.

LANCET NEUROLOGY (2018)

Add to Collection

Article Clinical Neurology

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone et al.

BRAIN (2016)

Add to Collection

Review Geriatrics & Gerontology

Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults

Junko Takahashi-Fujigasaki et al.

GERIATRICS & GERONTOLOGY INTERNATIONAL (2016)

Add to Collection

Article Clinical Neurology

Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants

Shahram Saberi et al.

NEUROLOGIC CLINICS (2015)

Add to Collection

Article Neurosciences

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Mariely DeJesus-Hernandez et al.

NEURON (2011)

Add to Collection

Article Multidisciplinary Sciences

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Andrew C. Elden et al.

NATURE (2010)

Add to Collection

Article Clinical Neurology

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

BR Brooks et al.

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)

Add to Collection

© Peeref 2019-2024. All rights reserved.