ArticleBrain : a journal of neurology2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Article in Brain : a journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 2 of them syntheses that pooled it.
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Who cites it
68 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.Cerebellum (London, England) · 2024Pooled it
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025Review
- Diagnosis of hereditary ataxias: a real-world single center experience.Journal of neurology · 2025Article
- Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.Frontiers in cellular neuroscience · 2024Review
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- Article
- Case report: Hereditary spastic paraplegia with a novel homozygous mutation inFrontiers in neurology · 2023Article
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias.Tomography (Ann Arbor, Mich.) · 2022Review
- Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.Cerebellum (London, England) · 2022Article
- In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.Scientific reports · 2022Article
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
- Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.Translational neurodegeneration · 2021Article
- Spinocerebellar ataxias (SCAs) caused by common mutations.Neurogenetics · 2021Review
- Milestones in genetics of cerebellar ataxias.Neurogenetics · 2021Review
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
8 more citing papers are in PubMed but not listed here.
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14 authors at 4 institutions in 1 country.
Funding
Abstract
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected families of white European descent. We defined the likely molecular diagnosis in 14 of 22 families (64%). This revealed de novo dominant mutations, validated disease genes previously described in isolated families, and broadened the clinical phenotype of known disease genes. The diagnostic yield was the same in both young and older-onset patients, including sporadic cases. We have demonstrated the impact of exome sequencing in a group of patients notoriously difficult to diagnose genetically. This has important implications for genetic counselling and diagnostic service provision.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.