ArticleClinical neuroradiology2018
Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.
Article in Clinical neuroradiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).European journal of human genetics : EJHG · 2025Article
- The diagnostic value of transcranial sonography in Swedish parkinsonism patients: A retrospective cohort study with long-term follow-up.Clinical parkinsonism & related disorders · 2025Article
- Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.Pharmaceuticals (Basel, Switzerland) · 2019Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAlthough the nature of basal ganglia hyperechogenicity in transcranial sonography (TCS) examinations remains unclear, many studies have shown associations between hyperechogenicity and iron accumulation. The role of iron in basal ganglia hyperechogenicity raises interest in the use of TCS in forms of neurodegeneration with brain iron accumulation (NBIA). Here we analyzed TCS and magnetic resonance imaging (MRI) findings among patients affected by one type of NBIA, mitochondrial membrane protein-associated neurodegeneration (MPAN).
methodsInvestigations using MRI and TCS were performed on 13 patients exhibiting a C19orf12 gene mutation.
resultsThe use of T2/T2* MRI revealed hypointense lesions restricted to the globus pallidus and substantia nigra. Using TCS examination, 12 patients exhibited bilateral hyperechogenicity of the lenticular nucleus, while no patients showed substantia nigra hyperechogenicity.
conclusionInvestigations with TCS revealed a distinctive hyperechogenicity pattern of the basal ganglia in MPAN patients, which might be useful for differential diagnostics. The variable TCS imaging findings in NBIA patients may result from the presence of different iron content, iron binding partners, such as ferritin and neuromelanin, as well as structural changes, such as gliosis.
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