title: Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.
abstract: BACKGROUND
  Although 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).
  
  
  METHODS
  Investigations using MRI and TCS were performed on 13 patients exhibiting a C19orf12 gene mutation.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  Investigations 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.
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland. marta.ms@simplusnet.pl.
authors.forename: Marta
authors.identifier: http://orcid.org/0000-0002-3573-6275
authors.initials: M
authors.lastname: Skowronska
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kmiec
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Czlonkowska
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Kurkowska-Jastrzębska
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005917:Globus Pallidus / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D051336:Mitochondrial Membranes / Q000473:pathology*; D024101:Mitochondrial Proteins; D019636:Neurodegenerative Diseases / Q000000981:diagnostic imaging*; D013378:Substantia Nigra / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography; D017585:Ultrasonography, Doppler, Transcranial; D055815:Young Adult
chemical_list: D024101:Mitochondrial Proteins
keywords: Hyperechogenicity of basal ganglia; MPAN diagnosis; Mitochondrial membrane protein-associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation (NBIA); Transcranial sonography; Transcranial sonography of MPAN