Mutations in the ATP13A2 Gene and Parkinsonism: A Preliminary Review

Table 1

Review of the literature on ATP13A2 mutations associated with Parkinson’s disease.

Ref.	Author	Year	Country of patient origin	Mutation	Notes
[7]	Ramirez et al.	2006	Chile, Jordan	c.3057delC (p.1019GfsX1021); c.1306+5G>A (p.G399_L435del); c.1632_1653dup22 (p.Leu552fsX788)
[11]	Di Fonzo et al.	2007	Brazil, Italy	c.1510G>C (p.Gly504Arg); c.35C>T (p.Thr12Met); c.1597G>A (p.Gly533Arg)
[12]	Ning et al.	2008	Japan	c.546C>A (p.Phe182Leu)
[14]	Lin et al.	2008	Taiwan, Singapore	c.2236G>A (p.Ala746Thr)	Ethnic Chinese
[18]	Djarmati et al.	2009	Various European countries	c.746C>T (p.Ala249Val); c.844A>T (p.Ser282Cys); c.2939G>A (p.Arg980His)
			Iran	c.1346G>A (p.Arg449Gln)
[20]	Schneider et al.	2010	Pakistan	c.1103_1104insGA (p.Thr367fsX29)
[25]	Fei et al.	2010	China (mainland)	c.2236G>A (p.Ala746Thr)
[26]	Mao et al.	2010	China (mainland)	c.2236G>A (p.Ala746Thr)
[13]	Funayama et al.	2010	Japan	c.2236G>A (p.Ala746Thr)
[15]	Chen et al.	2011	Taiwan	c.3274A>G (p.Gly1014Ser)	Ethnic Chinese
[21]	Fong et al.	2011	Lithuania	c.1108_1120del13 (p.Arg370fsX390)
[16]	Park et al.	2011	Various Asian countries	c.3176T>G (p.Leu1059Arg); c.3253delC (p.L1085wfsX1088)
[22]	Crosiers et al.	2011	Afghanistan	c.2742_2743delTT (p.F851CfsX856)
[23]	Eiberg et al.	2012	Greenland	c.2473C>AA (p.Leu825fs)	Ethnic Inuits
[17]	Zhu et al.	2012	China (mainland)	c.1754G>T (p. Ala585Asp)	Ethnic Chinese
[24]	Santoro et al.	2011	Italy	c.2629G>A (p.Gly877Arg)
[27]	Chan et al.	2013	China (Hong Kong)	c.2236G>A (p.Ala746Thr)	Ethnic Chinese
[28]	Darvish et al.	2013	Iran	Deletion of exon 2
[19]	Malakouti-Nejad et al.	2014	Iran	c.2762C>T (p.Gln858*)