ReviewJournal of neurology2013
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
Review in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 47 citations in OpenAlex.
- Imaging patterns of paediatric CNS mitochondrial disorders.Neuroradiology · 2026Review
- The clinical and neuroradiological features of hypertrophic olivary degeneration following brainstem stroke.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.Cerebellum (London, England) · 2024Review
- The first case report of spinocerebellar ataxia type-40 in India: novel phenotypic and radiological (bilateral olivary degeneration) features and a comprehensive review of this remarkable radiological sign.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Neuromitochondrial Disorders : Genomic Basis and an Algorithmic Approach to Imaging Diagnostics.Clinical neuroradiology · 2021Review
- Molecular basis of Leigh syndrome: a current look.Orphanet journal of rare diseases · 2020Review
- Cerebral imaging in paediatric mitochondrial disorders.The neuroradiology journal · 2018Review
- Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.Metabolic brain disease · 2018Article
- A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.Clinical case reports · 2017Article
- Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor.Frontiers in neurology · 2017Review
- Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.Cerebellum (London, England) · 2016Article
- The neuroimaging of Leigh syndrome: case series and review of the literature.Pediatric radiology · 2016Review
- Palatal Tremor inMovement disorders clinical practice · 2015Article
- Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Orphanet journal of rare diseases · 2015Article
- Hypertrophic olivary degeneration with gadolinium enhancement after posterior fossa surgery in a child with medulloblastoma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2014Article
- Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.The British journal of radiology · 2014Article
- SURF1 deficiency: a multi-centre natural history study.Orphanet journal of rare diseases · 2013Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Hypertrophic olivary degeneration (HOD) is associated with lesions within the dento-rubro-olivary pathway or Guillain-Mollaret triangle and may be associated clinically with palatal tremor. Here we report HOD on brain magnetic resonance (MR) imaging in three patients with progressive mitochondrial syndromes in the absence of palatal tremor. Two of the patients were found to have identical compound heterozygous mutations in the POLG gene, encoding the catalytic subunit of the mitochondrial DNA polymerase-γ, but presented with different clinical phenotypes. The first patient displayed the clinical syndrome of sensory ataxia, neuropathy, dysarthria, and ophthalmoparesis (SANDO), while the second patient was affected by a neurological disorder consisting of an ophthalmoplegia, myopathy, and neuropathy. The third case was a child with Leigh syndrome due to SURF1 gene mutations, who presented with a generalized tremor. We discuss the brain MR imaging findings in these three cases along with a literature review on the MR features of previously reported cases of patients with POLG gene mutations and Leigh disease due to SURF1 gene mutations. Our findings suggest that the presence of HOD, in the appropriate clinical setting, should alert the clinician to the possibility of a mitochondrial disorder and the need to screen for mutations in POLG and SURF1 genes.
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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.