ArticleBMC neurology2014
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
Article in BMC neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.CNS neuroscience & therapeutics · 2024Pooled it
- Mitochondrial complex III deficiency nuclear type 2: a case report and analysis of clinical onset age-related phenotypic features.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.Journal of inherited metabolic disease · 2024Review
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Loss-of-functionJBMR plus · 2024Article
- Mitochondrial Neurodegeneration.Cells · 2022Review
- Autosomal recessive spinocerebellar ataxia type 4 with aWorld journal of clinical cases · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.Life (Basel, Switzerland) · 2021Review
- Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.Nature communications · 2021Article
- Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.International journal of molecular sciences · 2021Review
- Biallelic mutation ofNeurology. Genetics · 2020Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- A NovelFrontiers in neurology · 2019Article
- Human diseases associated with defects in assembly of OXPHOS complexes.Essays in biochemistry · 2018Review
- Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Mitochondrion · 2016Article
- Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Orphanet journal of rare diseases · 2015Article
- A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Journal of human genetics · 2015Review
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5 authors.
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Abstract
backgroundSpinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA.
methodThe patient is a 37-year-old Japanese woman with consanguineous parents. The head magnetic resonance imaging (MRI) showed cerebellar atrophy and T1 low/T2 high intensity at the bilateral inferior olives. Single-nucleotide polymorphism (SNP) genotyping and next-generation sequencing were performed, and the variants obtained were filtered and prioritized.
resultsAfter these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*). TTC19 has been reported to be a causative gene of a neurodegenerative disease in Italian and Portuguese families and to be involved in the pathogenesis of mitochondrial respiratory chain complex III (cIII) deficiency. This report is the first description of a TTC19 mutation in an Asian population. Clinical symptoms and neuroimaging are consistent with previous reports. The head MRI already showed abnormal features four years before her blood lactate and pyruvate levels were elevated.
conclusionsWe should consider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities. Genes associated with mitochondrial function cause many types of SCAs; the mutation we identified should help to elucidate the pathology of these disorders.
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