Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.gim.2023.100961 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.
J Neurol
September 2024
National Reference Centre for Inherited Sensory Diseases, INM, Montpellier University, Montpellier, France.
Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5].
Methods: Routine clinical care whole-genome (WGS) and exome (ES) sequencing.
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
J Neurol
June 2024
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.
Background: Peripheral neuropathies in mitochondrial disease are caused by mutations in nuclear genes encoding mitochondrial proteins, or in the mitochondrial genome. Whole exome or genome sequencing enable parallel testing of nuclear and mtDNA genes, and it has significantly advanced the genetic diagnosis of inherited diseases. Despite this, approximately 40% of all Charcot-Marie-Tooth (CMT) cases remain undiagnosed.
View Article and Find Full Text PDFDigenic FLNA and UCHL1 variants resulting in a complex phenotype.
J Peripher Nerv Syst
March 2024
Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Aim: X-linked variants in Filamin A (FLNA) are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant variants in ubiquitin C-terminal hydrolase L1 (UCHL1) are associated with a late-onset spastic ataxia, peripheral neuropathy and optic atrophy. Here we present a rare case involving both a novel heterozygous whole-gene deletion of UCHL1 and a heterozygous frameshift variant in the FLNA gene resulting in a complex phenotype.
Methods: A 67-year-old female with a confirmed pathogenic variant in the FLNA gene, resulting in an enlarged aorta and joint pains, presented with a 4-year history of severe sensory ataxia, upper motor neuron signs, eye movement abnormalities and severe sensory loss.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
October 2023
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases
Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.
Parkinsonism Relat Disord
March 2023
Juntendo University School of Medicine, Department of Neurology, Tokyo, Japan.
Article Synopsis
- This pilot study aimed to identify genetic factors involved in familial Parkinson's disease (PD) among Filipino patients, addressing the unclear prevalence of familial PD.* -
- Eighteen Filipino patients from 11 families underwent genetic evaluation, with testing revealing six individuals carrying mutations associated with PD, particularly in the PINK1 and PRKN genes.* -
- The findings highlight specific genetic mutations linked to early-onset PD, providing foundational data that can support larger future research initiatives, including collaborations like The Global Parkinson's Genetics Program (GP2).*