Transcranial sonography in carriers of Gaucher disease

  • Fatemeh Omrani Department of Neurology, Hazrat-e Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Shahla Ansari-Damavandi Department of Pediatric Hematology, Ali Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Babak Zamani Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Zahra Omrani Department of Neurology, Hazrat-e Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Nahid Mohammadzade Department of Neurology, Hazrat-e Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Sadra Rohani Department of Neurology, Hazrat-e Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
  • Mohammad Rohani Department of Neurology, Hazrat-e Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran
Keywords: Transcranial Sonography, Gaucher Disease, Glucocerebrosidase; Parkinson's Disease, Substantia Nigra

Abstract

Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.

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Published
2018-07-05
How to Cite
1.
Omrani F, Ansari-Damavandi S, Zamani B, Omrani Z, Mohammadzade N, Rohani S, Rohani M. Transcranial sonography in carriers of Gaucher disease. IJNL. 17(3):145-8.
Section
Short Communication(s)