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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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. 郝瑩, 顧衛紅,王國相,等. 齒狀核紅核蒼白球路易體萎縮一例——臨床表型與基因突變分析. 中華醫學遺傳學雜志, 2013, 30(1):31-35.
2. 王俊嶺, 沈璐,雷立芳, 等. 中國大陸脊髓小腦性共濟失調家系和散發病例的最新基因突變分析. 中南大學學報(醫學版), 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,費凌霞,等, 齒狀核紅核蒼白球路易體變性的臨床和基因特征分析. 中華醫學遺傳學雜志, 2016,33(5):610-614.

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