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E27 Different Huntington’s Disease Phenotypes And Echogenicity Of Basal Ganglia Structures
  1. C Saft1,
  2. R Hoffmann1,
  3. K Strassburger-Krogias1,
  4. T Lücke2,
  5. SH Meves1,
  6. G Ellrichmann1,
  7. C Krogias1
  1. 1Department of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Gudrunstr. 56, 44791 Bochum, Germany
  2. 2Department of Neuropediatrics,University Children’s Hospital, Ruhr-University Bochum, St. Josef-Hospital, Alexandrinenstr. 5, 44791 Bochum, Germany

Abstract

Background Beside Chorea all other kinds of movement disorders, such as bradykinesia, dystonia, tremor or myoclonus can occur in Huntington’s disease. Aim: Aim of the current study was to investigate alterations in the echogenicity of basal ganglia structures in different Huntington’s disease phenotypes.

Method 47 patients with manifest and genetically confirmed HD were recruited. All participants underwent a thorough neurological examination. According to a previously described method, classification into predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes was performed depending on subscores of the Unified Huntington’s Disease Rating Scale. In addition, findings in juvenile HD were compared to adult HD. Transcranial sonography was performed by investigators blinded to clinical classification.

Results There were no significant differences in basal ganglia echogenicities between the three phenotypes. Size of echogenic area of Substantia nigra (SN) correlated positively with CAG-repeat and bradykinesia subscore, and negatively with age of onset and chorea subscore. Comparing juvenile and adult HD subtypes, SN-hyperechogenicity was significantly more often detectable in the juvenile form (100% vs. 29.3%, p = 0.002). Regarding echogenicity of caudate or lentiform nuclei, no significant differences were detected.

Discussion HD patients with the juvenile variant exhibit marked hyperechogenicity of Substantia nigra. Thus, a distinct different underlying pathophysiology of the disease in juvenile compared to adult HD is discussed.

KeyWords
  • basal ganglia
  • juvenile
  • echogenicity

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