Transcranial sonography in carriers of Gaucher disease
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.
2. Walter U, Behnke S, Eyding J, Niehaus L, Postert T, Seidel G, et al. Transcranial brain parenchyma sonography in movement disorders: State of the art. Ultrasound Med Biol 2007; 33(1): 15-25.
3. Favaretto S, Walter U, Baracchini C, Cagnin A. Transcranial sonography in neurodegenerative diseases with cognitive decline. J Alzheimers Dis 2018; 61(1): 29-40.
4. Barrett MJ, Hagenah J, Dhawan V, Peng S, Stanley K, Raymond D, et al. Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord 2013; 19(2): 186-91.
5. Kiferle L, Giuntini M, Bonuccelli U,Ceravolo R. Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology. Neurodegener Dis 2015; 15(5): 271-80.
6. Berg D, Godau J, Riederer P, Gerlach M, Arzberger T. Microglia activation is related to substantia nigra echogenicity. J Neural Transm (Vienna) 2010; 117(11): 1287-92.
7. Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett 2009; 452(2): 87-9.
8. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004; 41(12): 937-40.
9. Gan-Or Z, Bar-Shira A, Mirelman A,Gurevich T, Kedmi M, Giladi N, et al. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics 2010; 11(1): 121-5.
10. Kresojevic N, Mijajlovic M, Peric S, Pavlovic A, Svetel M, Jankovic M, et al. Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations. Parkinsonism Relat Disord 2013; 19(4): 431-5.
11. Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009; 132(Pt 7): 1783-94.
12. Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, et al. Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization. Mov Disord 2010; 25(10): 1364-72.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.