誤診為腦組織鐵沉積神經變性病的特發性基底節鈣化一例并文獻復習_Journal of Epilepsy

Authors：

聶瓊 ¹ , 閆琳琳 ¹ , 伊新艷 ² ,  張璇 ³

1. ;
2. ;
3. ;

Corresponding?author：

張璇, Email: sdjnzx881@163.com

Keywords：

DOI：

10.7507/2096-0247.202202006

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Citation： 聶瓊, 閆琳琳, 伊新艷, 張璇. 誤診為腦組織鐵沉積神經變性病的特發性基底節鈣化一例并文獻復習. Journal of Epilepsy, 2022, 8(3): 280-283. doi: 10.7507/2096-0247.202202006 Copy

1.	Konstantinou G, Stavrinou A, Mylona S, et al. Basal ganglia calcification: a case report of fahr disease with pure psychiatric symptoms. J Psychiatr Pract, 2019, 25(5): 391-394.
2.	Mandal A, Patel NB, Missouris CG. Sepsis unmasking fahr's disease. Am J Med Sci, 2020, 360(4): 406-409.
3.	Batla A, Tai XY, Schottlaender L, et al. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord, 2017, 37: 1-10.
4.	Peters M, de Brouwer E, Bartstra JW, et al. Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets. Neurol Clin Pract, 2020, 10(5): 449-457.
5.	Sekine SI, Nishii K, Masaka T, et al. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Biochem Biophys Res Commun, 2019, 510(2): 303-308.
6.	Subedi S, Mukhi S, Pandey P. Fahr's disease presenting with manic symptoms. JNMA J Nepal Med Assoc, 2018, 56(209): 553-555.
7.	Mu W, Tochen L, Bertsch C, et al. Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11. 2 encompassing SLC20A2 and THAP1. BMJ Case Rep, 2019, 12(5): e228782.
8.	Wang H, Shao B, Wang L, et al. Fahr's disease in two siblings in a family: A case report. Exp Ther Med, 2015, 9(5): 1931-1933.
9.	Mufaddel AA, Al-Hassani GA. Familial idiopathic basal ganglia calcification (Fahr`s disease). Neurosciences (Riyadh), 2014, 19(3): 171-177.
10.	Donzuso G, Mostile G, Nicoletti A, et al. Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. Neurol Sci, 2019, 40(11): 2251-2263.
11.	Valdes HMC, Glatz A, Kiker AJ, et al. Differentiation of calcified regions and iron deposits in the ageing brain on conventional structural MR images. J Magn Reson Imaging, 2014, 40(2): 324-333.

1. Konstantinou G, Stavrinou A, Mylona S, et al. Basal ganglia calcification: a case report of fahr disease with pure psychiatric symptoms. J Psychiatr Pract, 2019, 25(5): 391-394.
2. Mandal A, Patel NB, Missouris CG. Sepsis unmasking fahr's disease. Am J Med Sci, 2020, 360(4): 406-409.
3. Batla A, Tai XY, Schottlaender L, et al. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord, 2017, 37: 1-10.
4. Peters M, de Brouwer E, Bartstra JW, et al. Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets. Neurol Clin Pract, 2020, 10(5): 449-457.
5. Sekine SI, Nishii K, Masaka T, et al. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Biochem Biophys Res Commun, 2019, 510(2): 303-308.
6. Subedi S, Mukhi S, Pandey P. Fahr's disease presenting with manic symptoms. JNMA J Nepal Med Assoc, 2018, 56(209): 553-555.
7. Mu W, Tochen L, Bertsch C, et al. Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11. 2 encompassing SLC20A2 and THAP1. BMJ Case Rep, 2019, 12(5): e228782.
8. Wang H, Shao B, Wang L, et al. Fahr's disease in two siblings in a family: A case report. Exp Ther Med, 2015, 9(5): 1931-1933.
9. Mufaddel AA, Al-Hassani GA. Familial idiopathic basal ganglia calcification (Fahr`s disease). Neurosciences (Riyadh), 2014, 19(3): 171-177.
10. Donzuso G, Mostile G, Nicoletti A, et al. Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. Neurol Sci, 2019, 40(11): 2251-2263.
11. Valdes HMC, Glatz A, Kiker AJ, et al. Differentiation of calcified regions and iron deposits in the ageing brain on conventional structural MR images. J Magn Reson Imaging, 2014, 40(2): 324-333.

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誤診為腦組織鐵沉積神經變性病的特發性基底節鈣化一例并文獻復習

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