Dopa responsive dystonia with Turner’s syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

M Nitschke; D Steinberger; I Heberlein; V Otto; U Müller; P Vieregge

doi:10.1136/jnnp.64.6.806

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Short report

Dopa responsive dystonia with Turner’s syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene

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	Abstract	Full	Pdf
Mar 1999	3	4	1
Apr 1999	0	4	4
May 1999	0	3	6
Jun 1999	1	2	3
Jul 1999	1	2	0
Aug 1999	0	4	0
Oct 1999	0	1	0
Nov 1999	4	6	0
Dec 1999	1	1	0
Jan 2000	0	2	2
Feb 2000	1	3	0
Mar 2000	0	2	0
Apr 2000	1	3	2
May 2000	1	2	0
Jul 2000	0	1	1
Sep 2000	0	1	1
Oct 2000	3	5	1
Nov 2000	2	3	3
Dec 2000	0	3	4
Jan 2001	0	1	0
Mar 2001	0	2	0
Apr 2001	2	0	1
May 2001	1	0	1
Jun 2001	1	4	2
Jul 2001	0	1	0
Aug 2001	0	2	0
Oct 2001	1	2	4
Nov 2001	2	17	1
Dec 2001	1	1	0
Jan 2002	0	2	0
Feb 2002	0	1	0
Mar 2002	0	1	0
Apr 2002	1	5	0
May 2002	0	2	0
Aug 2002	0	1	0
Sep 2002	0	2	0
Oct 2002	1	4	2
Nov 2002	0	2	1
Dec 2002	1	8	1
Jan 2003	0	7	7
Mar 2003	0	1	0
Apr 2003	0	5	7
May 2003	0	2	1
Jun 2003	1	2	1
Jul 2003	0	3	2
Aug 2003	2	3	2
Sep 2003	4	4	1
Oct 2003	0	1	1
Nov 2003	2	3	2
Dec 2003	0	4	2
Jan 2004	0	2	1
Feb 2004	0	4	1
Mar 2004	1	2	0
Apr 2004	0	6	3
May 2004	0	1	0
Jun 2004	5	9	3
Jul 2004	14	29	1
Aug 2004	11	29	8
Sep 2004	5	44	2
Oct 2004	5	63	2
Nov 2004	13	124	5
Dec 2004	12	110	2
Jan 2005	31	141	0
Feb 2005	28	221	1
Mar 2005	33	191	10
Apr 2005	14	137	4
May 2005	3	55	1
Jun 2005	7	35	1
Jul 2005	4	17	5
Aug 2005	3	41	7
Sep 2005	3	41	1
Oct 2005	4	56	3
Nov 2005	1	68	2
Dec 2005	3	37	0
Jan 2006	3	63	13
Feb 2006	11	67	24
Mar 2006	8	101	26
Apr 2006	15	77	6
May 2006	11	25	5
Jun 2006	8	25	1
Jul 2006	1	14	1
Aug 2006	5	21	3
Sep 2006	6	46	12
Oct 2006	5	69	17
Nov 2006	9	71	16
Dec 2006	3	44	16
Jan 2007	5	46	2
Feb 2007	12	76	7
Mar 2007	23	105	6
Apr 2007	51	4	3
May 2007	33	0	0
Jun 2007	20	6	1
Jul 2007	21	12	0
Aug 2007	21	1	1
Sep 2007	15	0	1
Oct 2007	28	4	2
Nov 2007	22	2	2
Dec 2007	14	3	2
Jan 2008	28	8	0
Feb 2008	55	3	2
Mar 2008	43	1	1
Apr 2008	20	1	1
May 2008	10	2	2
Jun 2008	13	3	2
Jul 2008	10	1	1
Aug 2008	7	4	1
Sep 2008	19	2	0
Oct 2008	20	1	0
Nov 2008	15	1	0
Dec 2008	20	4	0
Jan 2009	12	0	0
Feb 2009	17	0	0
Mar 2009	11	1	0
Apr 2009	8	0	0
May 2009	16	6	2
Jun 2009	19	2	1
Jul 2009	11	2	2
Aug 2009	20	3	0
Sep 2009	14	1	0
Oct 2009	15	9	1
Nov 2009	14	2	0
Dec 2009	15	2	0
Jan 2010	21	1	1
Feb 2010	14	0	1
Mar 2010	19	2	0
Apr 2010	25	2	0
May 2010	28	1	2
Jun 2010	19	0	2
Jul 2010	10	1	0
Aug 2010	10	1	1
Sep 2010	13	1	0
Oct 2010	20	2	1
Nov 2010	25	0	1
Dec 2010	18	2	1
Jan 2011	16	0	0
Feb 2011	16	3	0
Mar 2011	8	9	1
Apr 2011	10	2	0
May 2011	3	0	1
Jun 2011	5	5	0
Jul 2011	7	4	0
Aug 2011	15	0	0
Sep 2011	12	0	0
Oct 2011	9	1	1
Nov 2011	16	15	1
Dec 2011	7	25	1
Jan 2012	5	26	1
Feb 2012	8	18	6
Mar 2012	10	12	2
Apr 2012	1	18	2
May 2012	7	22	3
Jun 2012	7	19	4
Jul 2012	7	22	11
Aug 2012	9	18	3
Sep 2012	10	11	6
Oct 2012	11	13	8
Nov 2012	11	20	6
Dec 2012	5	13	3
Jan 2013	9	22	13
Feb 2013	8	22	2
Mar 2013	3	17	2
Apr 2013	3	17	9
May 2013	5	18	9
Jun 2013	3	13	5
Jul 2013	8	12	7
Aug 2013	8	8	3
Sep 2013	10	12	6
Oct 2013	2	12	3
Nov 2013	10	6	2
Dec 2013	4	9	3
Jan 2014	1	12	1
Feb 2014	2	3	2
Mar 2014	5	2	5
Apr 2014	7	13	10
May 2014	3	10	6
Jun 2014	6	10	1
Jul 2014	6	17	3
Aug 2014	13	10	4
Sep 2014	6	7	4
Oct 2014	2	5	2
Nov 2014	0	4	1
Dec 2014	6	11	6
Jan 2015	3	9	0
Feb 2015	6	6	5
Mar 2015	9	5	1
Apr 2015	4	23	2
May 2015	2	11	0
Jun 2015	2	21	0
Jul 2015	1	10	1
Aug 2015	12	15	4
Sep 2015	7	3	0
Oct 2015	3	3	3
Nov 2015	11	10	2
Dec 2015	10	12	2
Jan 2016	8	9	8
Feb 2016	5	11	3
Mar 2016	4	7	6
Apr 2016	8	10	3
May 2016	9	10	4
Jun 2016	4	8	0
Jul 2016	5	9	2
Aug 2016	2	8	0
Sep 2016	3	7	5
Oct 2016	7	6	3
Nov 2016	2	7	1
Dec 2016	3	6	1
Jan 2017	7	8	3
Feb 2017	2	6	4
Mar 2017	2	4	0
Apr 2017	2	24	0
May 2017	2	19	0
Jun 2017	6	16	4
Jul 2017	10	7	1
Aug 2017	14	11	2
Sep 2017	30	18	2
Oct 2017	8	8	1
Nov 2017	22	20	8
Dec 2017	20	20	2
Jan 2018	11	11	7
Feb 2018	28	20	2
Mar 2018	18	16	3
Apr 2018	24	22	0
May 2018	44	37	0
Jun 2018	31	31	4
Jul 2018	30	26	6
Aug 2018	22	22	3
Sep 2018	21	20	0
Oct 2018	11	11	3
Nov 2018	23	19	3
Dec 2018	27	25	0
Jan 2019	9	6	1
Feb 2019	7	5	1
Mar 2019	22	16	3
Apr 2019	32	28	4
May 2019	21	18	3
Jun 2019	21	15	3
Jul 2019	20	18	1
Aug 2019	24	20	5
Sep 2019	21	21	3
Oct 2019	36	35	5
Nov 2019	16	14	4
Dec 2019	16	12	3
Jan 2020	22	10	1
Feb 2020	16	15	5
Mar 2020	11	9	1
Apr 2020	10	10	2
May 2020	11	11	2
Jun 2020	8	8	3
Jul 2020	17	14	7
Aug 2020	8	8	3
Sep 2020	18	18	3
Oct 2020	16	16	2
Nov 2020	14	12	11
Dec 2020	15	15	2
Jan 2021	30	28	3
Feb 2021	10	8	4
Mar 2021	25	25	4
Apr 2021	17	17	7
May 2021	14	14	4
Jun 2021	20	21	4
Jul 2021	11	11	3
Aug 2021	12	10	5
Sep 2021	23	22	9
Oct 2021	17	16	18
Nov 2021	24	22	27
Dec 2021	17	18	4
Jan 2022	18	18	0
Feb 2022	16	16	8
Mar 2022	25	24	4
Apr 2022	24	24	4
May 2022	35	35	9
Jun 2022	34	32	4
Jul 2022	35	34	2
Aug 2022	24	24	3
Sep 2022	34	33	7
Oct 2022	52	52	6
Nov 2022	28	25	3
Dec 2022	16	15	1
Jan 2023	22	22	6
Feb 2023	45	42	4
Mar 2023	12	11	6
Apr 2023	14	14	4
May 2023	19	13	5
Jun 2023	11	10	4
Jul 2023	8	8	6
Aug 2023	17	13	10
Sep 2023	18	18	6
Oct 2023	16	14	6
Nov 2023	24	25	6
Dec 2023	43	6	1
Jan 2024	25	0	0
Feb 2024	14	0	0
Mar 2024	22	1	2
Total	3414	4852	893

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