Clinical study about the patients onset epilepsy diaginose of Dentatorubral-pallidoluysian atropy_Journal of Epilepsy

Authors：

 OUYangmei , FEILingxia , LIHua , HUXiangshu , ZHANGPeiqi , LONGQiting , LIUXinzhou

Epileptic Center, Guangdong 999 Brain Hospital, Guang zhou 510510, Guangdong, China;

Corresponding author：

OUYangmei, Email: oymsunny@sina.com

Keywords：

Progressive myoclonus epilepsy; Dentatorubral-pallidoluysian atropy; Spinocerebellar ataxia

DOI：

10.7507/2096-0247.20160086

Video：

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Abstract Full text Figures/Tables Video References Cited by

Objective To study the clinical characteristics of patients onset epilepsy Dentatorubral-pallidoluysian atropy (DRPLA) in Epilepsy Center of Guangdong 999 Brain Hospital and improve understanding of the disease. Methods Collected five patients from August 2014 to August 2016 in Guangdong 999 Brain Hospital, whom diagnosed through genetic testing of DRPLA, analysed their disease course, family history, video-EEG, brain MRI and treatment data. Results DRPLA performed as neurodegenerative diseases, and epilepsy population mainly performed as progressive myoclonic epilepsy (Progressive myoclonus epilepsy, PME). Conclusion DRPLA is autosomal dominant neurodegenerative disease. In patients with cerebellar atrophy, neurological regression, ataxia, drug refractory epilepsy, it is recommended routinely to detect ATN1 gene, so that timely diagnosis and genetic counseling.

Citation： OUYangmei, FEILingxia, LIHua, HUXiangshu, ZHANGPeiqi, LONGQiting, LIUXinzhou. Clinical study about the patients onset epilepsy diaginose of Dentatorubral-pallidoluysian atropy. Journal of Epilepsy, 2016, 2(6): 488-493. doi: 10.7507/2096-0247.20160086 Copy

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1. 郝莹, 顾卫红,王国相,等. 齿状核红核苍白球路易体萎缩一例——临床表型与基因突变分析. 中华医学遗传学杂志, 2013, 30(1):31-35.
2. 王俊岭, 沈璐,雷立芳, 等. 中国大陆脊髓小脑性共济失调家系和散发病例的最新基因突变分析. 中南大学学报(医学版), 2011, 36(6):482-489.
3. Trott A, Houenou LJ. Mini-review:spinocerebellar ataxias:an update of SCA genes. Recent Pat DNA Gene Seq, 2012, 6(2):115-121.
4. Ishikawa K, Ishiguro T, Takahashi M, et al. Molecular genetic approach to spinocerebellar ataxias. Rinsho Shinkeigaku, 2009, 49(11):907-909.
5. Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet, 2016, 17(4):224-238.
6. Tsuji S. Dentatorubral-pallidoluysian atrophy. Handb Clin Neurol, 2012, 103(11):587-594.
7. Suzuki Y, Yazawa I. Pathological accumulation of atrophin-1 in dentatorubral-pallidoluysian atrophy. Int J Clin Exp Pathol, 2011, 4(4):378-384.
8. Kalviainen R. Progressive myoclonus epilepsies. Semin Neurol, 2015, 35(3):293-294.
9. Wardle M, Morris HR, Robertson NP. Clinical and genetic characteristics of non-asian dentatorubral-pallidoluysian atrophy:A systematic review. Mov Disord, 2009, 24(11):1636-1640.
10. Egawa K, Takahashi Y, Kubota Y, et al. Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy. Epilepsia, 2008, 49(12):2041-2049.
11. Burgunder JM. Genetics of huntington's disease and related disorders. Drug Discov Today, 2014, 19(7):985-989.
12. Yam WK, Wu NS, Lo IF, et al. Dentatorubral-pallidoluysian atrophy in two Chinese families in hong kong. Hong Kong Med J, 2004, 10(1):53-56.
13. 李花, 胡湘蜀,费凌霞,等, 齿状核红核苍白球路易体变性的临床和基因特征分析. 中华医学遗传学杂志, 2016,33(5):610-614.

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