Epilepsy and metalchromatic leukodystrophy：analysis of the clinical data and the gene mutations inafamily with late infantile metalchromatic leukodystrophy_Journal of Epilepsy

Authors：

 ZHANGJingwen ^1,2 , ZHUOMuqing ³ , WANGLingan ^1,3 , ZHANGYuxin ¹ , CHENZhihong ¹ , GUOYuxiong ^1,3 ,  ZHAIQiongxiang ¹

1. Department of Pediatrics, Guangdong General Hospital, Guangzhou 510080, Guangdong, China;
2. Medical College of Shantou University, Shantou 515063, Guangdong, China;
3. Southern Medical University, Guangzhou 510515, Guangdong, China;

Corresponding author：

ZHAIQiongxiang, Email: zhaiqiongxiang@sina.com

Keywords：

Epilepsy; Metalchromatic leukodystrophy; Arylsulfatase A; Gene mutation

DOI：

10.7507/2096-0247.20160018

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Objective To research the clinical characteristics and the arysulfatase A(ARSA) gene screening inafamily withametachromatic leukodystrophy and epilepsy child. Methods Clinical data were collected and ARSA gene were tested by PCR and Sanger sequencing in the pedigree． Results Two mutations in exon 2 of ARSA gene was identified in the proband includingaknown heterozygous missense mutation c.293C>T which was also found in his mother andanovel frameshift mutation c.302de1G. None of them was found in the proband’s brother. Conclusion The intractable epilepsy of the proband was related to his metachromatic leukodystrophy. Andanew frameshift mutation c.302delG was found in his ARSA gene, which haven’t reported around the world yet. Combined with the patient’s typical late infantile presentation, we speculated that the frameshift mutation c.302delG may be the cause of MLD.

Citation： ZHANGJingwen, ZHUOMuqing, WANGLingan, ZHANGYuxin, CHENZhihong, GUOYuxiong, ZHAIQiongxiang. Epilepsy and metalchromatic leukodystrophy：analysis of the clinical data and the gene mutations inafamily with late infantile metalchromatic leukodystrophy. Journal of Epilepsy, 2016, 2(2): 101-105. doi: 10.7507/2096-0247.20160018 Copy

1.	Lugowska A, Mierzewska H, Bekiesinska-Figatowska M, et al. A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. J Neurol Sci, 2014, 338(1-2):214-217.
2.	王静敏,姜玉武,施惠平,等. 一个异染性脑白质营养不良家系ARSA基因突变分析. 中华医学遗传学杂志, 2006, 23(4):378-382.
3.	Dorboz I, Eymard-Pierre E, Kefi R, et al. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). J Neurol Sci, 2009, 287(1-2):78-280.
4.	Kang D H, Lee D H, Hong Y H, et al. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy. Korean J Lab Med, 2010, 30(5)：516-520.
5.	Cesani M, Capotondo A, Plati T, et al. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Hum Mutat, 2009, 30(10): 936-945.
6.	张巍,姚生,常杏芝,等. 无脑白质影像学改变的晚发婴儿型异染性脑白质营养不良. 中国现代神经疾病杂志, 2005, 5(6): 385-388.
7.	李海燕,唐北沙. 异染性脑白质营养不良研究进展. 国外医学· 儿科学分册,2002, 29(4): 178-181.
8.	Balslve T, Cortez MA, Blaser SI, et al. Recurrent seizures in metalchromatic leukodystrophy. Pediatr Neurol, 1997, 17(3): 150-154.
9.	Niida Y, Kuroda M, Mitani Y, et al. Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy. J Hum Genet, 2012, 57(10): 687-690.
10.	Kehrer C, Groeschel S, Kustermann-Kuhn B, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis, 2014, 9(5): 18.
11.	Artigalas O, Paskulin G, Riegel M, et al. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity. Genet Mol Biol, 2012, 35(2): 424-427.
12.	Luzi P, Rafi MA, Rao HZ, et al. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene, 2013, 530(2): 323-328.
13.	Gieselmann V, Fluharty AL, Tonnesen T, et al. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet, 1991, 49(2): 407-413.

1. Lugowska A, Mierzewska H, Bekiesinska-Figatowska M, et al. A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. J Neurol Sci, 2014, 338(1-2):214-217.
2. 王静敏,姜玉武,施惠平,等. 一个异染性脑白质营养不良家系ARSA基因突变分析. 中华医学遗传学杂志, 2006, 23(4):378-382.
3. Dorboz I, Eymard-Pierre E, Kefi R, et al. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). J Neurol Sci, 2009, 287(1-2):78-280.
4. Kang D H, Lee D H, Hong Y H, et al. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy. Korean J Lab Med, 2010, 30(5)：516-520.
5. Cesani M, Capotondo A, Plati T, et al. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Hum Mutat, 2009, 30(10): 936-945.
6. 张巍,姚生,常杏芝,等. 无脑白质影像学改变的晚发婴儿型异染性脑白质营养不良. 中国现代神经疾病杂志, 2005, 5(6): 385-388.
7. 李海燕,唐北沙. 异染性脑白质营养不良研究进展. 国外医学· 儿科学分册,2002, 29(4): 178-181.
8. Balslve T, Cortez MA, Blaser SI, et al. Recurrent seizures in metalchromatic leukodystrophy. Pediatr Neurol, 1997, 17(3): 150-154.
9. Niida Y, Kuroda M, Mitani Y, et al. Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy. J Hum Genet, 2012, 57(10): 687-690.
10. Kehrer C, Groeschel S, Kustermann-Kuhn B, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis, 2014, 9(5): 18.
11. Artigalas O, Paskulin G, Riegel M, et al. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity. Genet Mol Biol, 2012, 35(2): 424-427.
12. Luzi P, Rafi MA, Rao HZ, et al. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene, 2013, 530(2): 323-328.
13. Gieselmann V, Fluharty AL, Tonnesen T, et al. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet, 1991, 49(2): 407-413.

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