☆ 4.7 Article

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype

CNS NEUROSCIENCE & THERAPEUTICS (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Review Biochemistry & Molecular Biology

Hereditary Spastic Paraplegia: An Update

Arun Meyyazhagan et al.

Summary: This review provides an overview of hereditary spastic paraplegia (HSP), including its clinical manifestations, etiology, diagnosis, and treatment methods. Although modern medical interventions have helped, there is still room for improvement in the treatment of this disorder.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

添加到收藏夹

Article Genetics & Heredity

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Lucia Laugwitz et al.

Summary: Human coenzyme Q4 (COQ4) is crucial for coenzyme Q(10) (CoQ(10)) biosynthesis and pathogenic variants in COQ4 cause childhood-onset neurodegeneration. This study characterized the clinical spectrum of COQ4 deficiency and identified phenotypic subtypes, with cell-based studies supporting the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ(10) supplementation, alternative treatment strategies are needed.

JOURNAL OF MEDICAL GENETICS (2022)

添加到收藏夹

Review Genetics & Heredity

Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment

Jieqiong Xie et al.

Summary: This review discusses the correlation between COQ4 genotypes, particularly the East Asian-specific c.370G > A variant, and the clinical presentations and therapeutic effectiveness of coenzyme Q10 supplementation in Primary Coenzyme Q10 Deficiency-7 (COQ10D7). Different COQ4 variants are associated with different disease severities, onset ages, and responses to coenzyme Q10 therapy. Understanding the genotype-phenotype correlation of COQ10D7 is important for clinical diagnosis, prognosis, and intervention.

FRONTIERS IN GENETICS (2022)

添加到收藏夹

Article Clinical Neurology

Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease

Tenghui Wu et al.

Summary: This study analyzed the phenotype-genotype correlation of mitochondrial disorders according to molecular functions. The results showed that mtDNA variant patients constituted a large percentage of mitochondrial disease in China, while patients in the Respiratory Chain group showed a male preponderance. Patients in the Protein Synthesis group had a later onset and higher serum lactate level. On the other hand, patients with nuclear DNA variants had a younger onset age and no specific lactate or cranial imaging features, especially in the Others group.

PEDIATRIC NEUROLOGY (2022)

添加到收藏夹

Article Clinical Neurology

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

Isabell Cordts et al.

Summary: Bi-allelic variants in the COQ4 gene were found to cause an adult-onset ataxia-spasticity spectrum phenotype, and the disease course was milder than previously reported.

MOVEMENT DISORDERS (2022)

添加到收藏夹

Article Clinical Neurology

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

Serena Mero et al.

Summary: Mutations in the COQ4 gene can lead to mitochondrial diseases with diverse clinical presentations. We reported two patients with bi-allelic variants in COQ4, expanding the phenotypic and genetic spectrum, both presenting with motor impairment and ataxia. Functional studies in patient-derived cells and model organisms confirmed the disease relevance of these mutations, providing insights into the role of COQ4 in brain development in vivo.

JOURNAL OF NEUROLOGY (2021)

添加到收藏夹

Letter Biochemistry & Molecular Biology

A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia

Qiao Wei et al.

JOURNAL OF GENETICS AND GENOMICS (2021)

添加到收藏夹

Article Clinical Neurology

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene

Karlien Mul et al.

PARKINSONISM & RELATED DISORDERS (2020)

添加到收藏夹

Review Clinical Neurology

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Samuel Shribman et al.

LANCET NEUROLOGY (2019)

添加到收藏夹

Article Neurosciences

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Qiao Wei et al.

TRANSLATIONAL NEURODEGENERATION (2019)

添加到收藏夹

Article Genetics & Heredity

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Mullin Ho-Chung Yu et al.

NPJ GENOMIC MEDICINE (2019)

添加到收藏夹

Article Medical Laboratory Technology

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Tsz-ki Ling et al.

CLINICA CHIMICA ACTA (2019)

添加到收藏夹

Article Genetics & Heredity

Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome

Mei Lu et al.

JOURNAL OF HUMAN GENETICS (2019)

添加到收藏夹

Article Genetics & Heredity

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

Cong Lu et al.

JOURNAL OF MOLECULAR MEDICINE-JMM (2018)

添加到收藏夹

Article Genetics & Heredity

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Gloria Brea-Calvo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

添加到收藏夹

Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

添加到收藏夹

Review Genetics & Heredity

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Christelle Tesson et al.

HUMAN GENETICS (2015)

添加到收藏夹

Article Endocrinology & Metabolism

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

Maria Andrea Desbats et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

添加到收藏夹

Review Clinical Neurology

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

John K. Fink

ACTA NEUROPATHOLOGICA (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Alberto Casarin et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.