Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.
Asia
Gene
Genetics
Hereditary
History
Movement disorders
Journal
Journal of movement disorders
ISSN: 2005-940X
Titre abrégé: J Mov Disord
Pays: Korea (South)
ID NLM: 101527867
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
31
03
2023
accepted:
26
05
2023
medline:
13
6
2023
pubmed:
13
6
2023
entrez:
13
6
2023
Statut:
ppublish
Résumé
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Identifiants
pubmed: 37309109
pii: jmd.23065
doi: 10.14802/jmd.23065
pmc: PMC10548072
doi:
Types de publication
Journal Article
Langues
eng
Pagination
231-247Références
Parkinsonism Relat Disord. 2016 Oct;31:91-97
pubmed: 27481033
Folia Psychiatr Neurol Jpn. 1958 Jul;12(2):112-21
pubmed: 13653210
Acta Neurol Scand. 1995 Feb;91(2):98-102
pubmed: 7785431
Neuroscience. 1996 Jun;72(3):863-76
pubmed: 9157332
Eur J Hum Genet. 2015 Oct;23(10):1334-40
pubmed: 25604858
Neurology. 2010 Jun 15;74(24):2000-3
pubmed: 20548044
Hum Mol Genet. 1999 Jan;8(1):99-106
pubmed: 9887337
Brain. 2011 Dec;134(Pt 12):3493-3501
pubmed: 22120146
Ann Neurol. 2003;54 Suppl 6:S32-45
pubmed: 12891652
Adv Neurol. 1976;14:215-33
pubmed: 945938
J Korean Med Sci. 2018 May 24;33(28):e184
pubmed: 29983692
J Neural Transm (Vienna). 2021 Apr;128(4):567-573
pubmed: 33721107
Neurology. 1988 Jul;38(7):1065-70
pubmed: 3386824
Neurology. 2008 Aug 26;71(9):670-6
pubmed: 18725592
Acta Neurol Scand. 1994 May;89(5):347-52
pubmed: 8085432
J Neural Transm (Vienna). 2021 May;128(5):671-678
pubmed: 33638704
Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):595-9
pubmed: 26130016
Ann Neurol. 1994 Apr;35(4):396-402
pubmed: 7908789
J Neurol Neurosurg Psychiatry. 1989 Jun;Suppl:78-89
pubmed: 2666581
Glia. 2020 Nov;68(11):2277-2299
pubmed: 32415886
Neurology. 2019 Oct 1;93(14):630-639
pubmed: 31570638
Am J Med Genet A. 2007 Jan 15;143A(2):149-60
pubmed: 17167799
Parkinsonism Relat Disord. 2019 Jul;64:8-19
pubmed: 30121162
Int J Neurosci. 2011;121 Suppl 1:18-21
pubmed: 21244304
Arch Neurol. 1989 Jul;46(7):774-9
pubmed: 2742549
Seishin Shinkeigaku Zasshi. 1972 Dec;74(12):871-97
pubmed: 4676918
Folia Neuropathol. 2019;57(3):285-294
pubmed: 31588715
Stereotact Funct Neurosurg. 2018;96(5):320-326
pubmed: 30481788
Epilepsia. 2005 Dec;46(12):1993-5
pubmed: 16393167
Parkinsonism Relat Disord. 2019 Aug;65:270-271
pubmed: 31147223
Mol Pathol. 2001 Dec;54(6):362-8
pubmed: 11724910
Am J Med Genet A. 2019 Nov;179(11):2237-2240
pubmed: 31347785
Adv Neurol. 1976;14:137-51
pubmed: 941767
Brain. 2015 Dec;138(Pt 12):3567-80
pubmed: 26598494
Ann Neurol. 1995 Oct;38(4):571-9
pubmed: 7574453
Eur J Hum Genet. 2021 Feb;29(2):343-348
pubmed: 32973343
Epilepsy Res. 2006 Aug;70 Suppl 1:S174-84
pubmed: 16901678
Mov Disord Clin Pract. 2023 May 08;10(6):878-895
pubmed: 37332644
Am J Med Genet A. 2011 Nov;155A(11):2647-53
pubmed: 21964978
Am J Hum Genet. 2007 Mar;80(3):393-406
pubmed: 17273961
Epilepsia. 2009 May;50(5):1284-8
pubmed: 19222544
Mov Disord. 2018 May;33(5):730-741
pubmed: 29644727
Parkinsonism Relat Disord. 2020 Jul;76:42-43
pubmed: 32559632
AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262
pubmed: 30409855
Clin Dysmorphol. 2008 Jan;17(1):57-60
pubmed: 18049083
Brain Res. 1983 Jan 10;258(2):217-28
pubmed: 6824912
Biochem Biophys Res Commun. 1996 Sep 13;226(2):561-5
pubmed: 8806673
Int J Neurosci. 2011;121 Suppl 1:35-43
pubmed: 21244305
Mov Disord Clin Pract. 2020 Sep 04;7(7):838-841
pubmed: 33033738
Nat Genet. 2006 Oct;38(10):1184-91
pubmed: 16964263
Nat Genet. 1993 Jul;4(3):221-6
pubmed: 8358429
Genomics. 1999 Sep 15;60(3):320-9
pubmed: 10493831
Mov Disord. 2005 Oct;20(10):1264-71
pubmed: 15986421
Brain. 2001 Dec;124(Pt 12):2459-75
pubmed: 11701600
Am J Hum Genet. 2008 Dec;83(6):684-91
pubmed: 19026396
NPJ Parkinsons Dis. 2020 Nov 13;6(1):33
pubmed: 33298969
J Neurol Neurosurg Psychiatry. 1984 Dec;47(12):1288-98
pubmed: 6512549
J Med Genet. 2001 Oct;38(10):680-2
pubmed: 11584046
Am J Med Genet. 1985 Nov;22(3):619-22
pubmed: 4061495
Epileptic Disord. 2016 Mar;18(1):67-72
pubmed: 26907167
Neurology. 1973 Mar;23(3):239-44
pubmed: 4735177
Mov Disord Clin Pract. 2017 Dec 28;5(2):195-199
pubmed: 30868101
Brain. 2014 Sep;137(Pt 9):2480-92
pubmed: 24993959
Hum Genet. 2016 Oct;135(10):1117-25
pubmed: 27368338
Stereotact Funct Neurosurg. 2010;88(5):329-33
pubmed: 20714213
Mov Disord. 2014 Aug;29(9):1108-16
pubmed: 24963779
Mov Disord. 2022 Jun;37(6):1131-1148
pubmed: 35445419
Curr Opin Neurol. 2019 Aug;32(4):604-609
pubmed: 31116117
J Clin Neurosci. 2014 Jan;21(1):107-10
pubmed: 24060625
Brain. 2018 Aug 1;141(8):2280-2288
pubmed: 29939203
Mov Disord. 2015 Oct;30(12):1591-601
pubmed: 26474316
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
Mov Disord. 2007 Sep 15;22(12):1790-3
pubmed: 17579361
J Cell Biol. 2008 Dec 1;183(5):795-803
pubmed: 19029340
JAMA Neurol. 2019 Feb 1;76(2):211-216
pubmed: 30508028
Parkinsonism Relat Disord. 2019 Dec;69:99-103
pubmed: 31726291
Adv Neurol. 1993;60:562-7
pubmed: 8420192
Adv Neurol. 1993;60:568-76
pubmed: 8420193
Rinsho Shinkeigaku. 1984 Jan;24(1):1-8
pubmed: 6467734
Neurology. 1990 Oct;40(10):1561-5
pubmed: 2215948
Gene. 2011 Dec 15;490(1-2):26-31
pubmed: 21963443
Eur J Hum Genet. 2020 Jul;28(7):973-978
pubmed: 32203200
Neurology. 1958 Mar;8(3):205-9
pubmed: 13517487
Am J Hum Genet. 1999 Sep;65(3):745-51
pubmed: 10441581
Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10347-52
pubmed: 12928496
Eur J Hum Genet. 2013 Feb;21(2):225-8
pubmed: 22713812
Am J Med Genet A. 2022 Jan;188(1):116-129
pubmed: 34590781
Nat Commun. 2019 Oct 29;10(1):4920
pubmed: 31664034
Seishin Shinkeigaku Zasshi. 1979;81(9):571-86
pubmed: 119245
Mov Disord. 2002 Jan;17(1):200-2
pubmed: 11835466
Nat Genet. 1994 Jan;6(1):14-8
pubmed: 8136826
Mov Disord. 2008 Mar 15;23(4):592-6
pubmed: 18175354
J Hum Genet. 2011 Oct;56(10):742-7
pubmed: 21850007
Brain Dev. 2000 Sep;22 Suppl 1:S1-4
pubmed: 10984655
Neurology. 1999 Oct 12;53(6):1180-3
pubmed: 10522869
Hum Genomics. 2017 Nov 6;11(1):25
pubmed: 29110692
Neurology. 1967 Jul;17(7):680-90
pubmed: 6067487
Brain. 2019 Nov 1;142(11):3360-3366
pubmed: 31539032
Genomics. 1993 Jun;16(3):572-9
pubmed: 8325628
Nature. 1998 Apr 9;392(6676):605-8
pubmed: 9560156
Ann Neurol. 2019 Jun;85(6):812-822
pubmed: 30973967
Int J Neurosci. 2011;121 Suppl 1:12-7
pubmed: 21034368
Seishin Shinkeigaku Zasshi. 1975 Jan 25;77(1):1-18
pubmed: 1173290
Ann Neurol. 2000 Jul;48(1):65-71
pubmed: 10894217
Mov Disord. 2021 Oct;36(10):2446-2448
pubmed: 34302697
Neurology. 2007 May 8;68(19):1557-62
pubmed: 17485642
Neurosci Lett. 2012 Aug 8;523(1):35-8
pubmed: 22743658
Nat Genet. 2011 Nov 20;43(12):1252-5
pubmed: 22101681
Nat Commun. 2019 Oct 29;10(1):4919
pubmed: 31664039
Brain Commun. 2020 Dec 19;3(1):fcaa214
pubmed: 33501421
Arch Neurol. 2012 Apr;69(4):474-81
pubmed: 22491192
J Med Genet. 1990 Feb;27(2):105-8
pubmed: 1969487
J Neurol. 2021 Aug;268(8):3031-3041
pubmed: 33106889
Curr Opin Genet Dev. 2020 Dec;65:176-185
pubmed: 32777681
Neuropediatrics. 2013 Mar;44(2):61-6
pubmed: 23468278
Int J Neurosci. 2011;121 Suppl 1:3-11
pubmed: 21047175
Seizure. 2018 Oct;61:14-22
pubmed: 30053653
Mov Disord. 2008 Jun 15;23(8):1093-9
pubmed: 18442131
Neurology. 2003 Apr 22;60(8):1381-5
pubmed: 12707452
J Mov Disord. 2016 May;9(2):120-3
pubmed: 27240811
Am J Case Rep. 2018 Mar 25;19:347-353
pubmed: 29574468
Nat Genet. 1994 Nov;8(3):236-42
pubmed: 7874165
Hum Mutat. 2000 Sep;16(3):224-31
pubmed: 10980529
Arch Neurol. 2004 Jul;61(7):1025-9
pubmed: 15262732
N Engl J Med. 1983 Jan 20;308(3):157-8
pubmed: 6848912
Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61
pubmed: 21286947
J Med Genet. 1983 Jun;20(3):216-9
pubmed: 6876115
Mov Disord. 1995 Jul;10(4):513-7
pubmed: 7565837
Mov Disord. 2010 Sep 15;25(12):1929-37
pubmed: 20683840
Nat Genet. 1994 Aug;7(4):521-4
pubmed: 7951323
Hum Mol Genet. 2012 Jun 15;21(12):2646-50
pubmed: 22388936
Arch Neurol. 2010 Aug;67(8):1012-5
pubmed: 20697054
Epileptic Disord. 2013 Dec;15(4):428-32
pubmed: 24184691
Seishin Shinkeigaku Zasshi. 1990;92(1):1-21
pubmed: 2112762
Nat Genet. 1994 Jan;6(1):9-13
pubmed: 8136840
Clin Dysmorphol. 2000 Apr;9(2):123-5
pubmed: 10826625
Clin Genet. 2010 Dec;78(6):594-7
pubmed: 21044051
Brain. 2017 Feb;140(2):287-305
pubmed: 28137957
Hum Genomics. 2019 Apr 16;13(1):19
pubmed: 30992063
J Pediatr. 1973 Mar;82(3):461-5
pubmed: 4698933
Neurology. 1978 Sep;28(9 Pt 1):913-9
pubmed: 99688
Hum Mol Genet. 2004 Dec 15;13(24):3161-70
pubmed: 15496428
Nat Genet. 2000 Jul;25(3):302-5
pubmed: 10888878
Clin Neurophysiol. 2019 Oct;130(10):1804-1812
pubmed: 31401489
Neurology. 1982 Aug;32(8):798-807
pubmed: 6808417