Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant

被引：24

作者：

Yoo, Dallah ^{[1
,2
]}

Kim, Han-Joon ^{[1
,2
]}

Lee, Jin Sook ^{[3
]}

Lee, Sangmoon ^{[4
]}

Kim, Soo Yeon ^{[5
]}

Choi, Murim ^{[6
]}

Chae, Jong-Hee ^{[7
]}

Jeon, Beomseok ^{[8
,9
]}

机构：

[1] Seoul Natl Univ, Dept Neurol, 101 Daehakro, Seoul 03080, South Korea

[2] Seoul Natl Univ, Movement Disorder Ctr, Parkinson Study Grp, Neurosci Res Inst,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[3] Gachon Univ Gil, Med Ctr, Dept Genome Med & Sci, Dept Pediat, Incheon, South Korea

[4] Seoul Natl Univ, Coll Med, Dept Biomed Sci, 101 Daehakro, Seoul 03080, South Korea

[5] Seoul Natl Univ, Childrens Hosp, Div Pediat Neurol, Dept Pediat,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[6] Seoul Natl Univ, Coll Med, Dept Biomed Sci, 101 Daehakro, Seoul 03080, South Korea

[7] Seoul Natl Univ, Coll Med, Childrens Hosp, Dept Pediat,Pediat Clin Neurosci Ctr, Seoul 03080, South Korea

[8] Seoul Natl Univ, Dept Neurol, Neurosci Res Inst, Parkinson Study Grp,Coll Med, 101 Daehakro, Seoul 03080, South Korea

[9] Seoul Natl Univ, Movement Disorder Ctr, Parkinson Study Grp, Neuroscience Res Inst,Coll Med, 101 Daehakro, Seoul 03080, South Korea

来源：

PARKINSONISM & RELATED DISORDERS | 2018年 / 50卷

关键词：

ANO3; Generalized dystonia; Myoclonus; Childhood; MUTATIONS;

D O I：

10.1016/j.parkreldis.2018.02.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：124 / 125

页数：2

共 50 条

[21] A patient with early-onset SMAX3 and a novel variant of ATP7A
Shibuya, Moriei
Yaoita, Hisao
Kodama, Kaori
Okubo, Yukimune
Endo, Wakaba
Inui, Takehiko
Togashi, Noriko
Takayama, Jun
Tamiya, Gen
Kikuchi, Atsuo
Kure, Shigeo
Haginoya, Kazuhiro
BRAIN & DEVELOPMENT, 2022, 44 (01): : 63 - 67
[22] An atypical case of early-onset dystonia with a novel missense variant in KMT2B
Zhou, Xin-Yue
Wu, Jian-Jun
Sun, Yi-Min
PARKINSONISM & RELATED DISORDERS, 2019, 63 : 224 - 226
[23] Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia
Delamarre, A.
Chelly, J.
Guehl, D.
Drouot, N.
Tranchant, C.
Anheim, M.
Burbaud, P.
PARKINSONISM & RELATED DISORDERS, 2019, 64 : 346 - 348
[24] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia
Schneider, Susanne
Ramirez, Alfredo
Shafiee, Kaveh
Kaiser, Frank
Erogullari, Alev
Bruggemann, Norbert
Winkler, Susen
Bahman, Ideh
Osmanovic, Alma
Shafa, M.
Bhatia, Kailash
Najmabadi, Hossein
Klein, Christine
Lohmann, Katja
NEUROLOGY, 2011, 76 (09) : A19 - A19
[25] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized Dystonia
Schneider, Susanne A.
Ramirez, Alfredo
Shafiee, Kaveh
Kaiser, Frank J.
Erogullari, Alev
Brueggemann, Norbert
Winkler, Susen
Bahman, Ideh
Osmanovic, Alma
Shafa, Mohammad A.
Bhatia, Kailish P.
Najmabadi, Hossein
Klein, Christine
Lohmann, Katja
MOVEMENT DISORDERS, 2011, 26 (05) : 858 - 861
[26] A Rare Cause of Early-Onset Obesity: A Novel Variant in LEPR
Karatas, Murat Caglar
Koprulu, Ozge
Ozkan, Behzat
HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 680 - 681
[27] Functional recovery after bilateral pallidotomy for the treatment of early-onset primary generalized dystonia
Lai, T
Lai, JM
Grossman, RG
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION, 1999, 80 (10): : 1340 - 1342
[28] Biallelic ZNF142-null mutations in patients with early-onset generalized dystonia
Zech, M.
Skorvanek, M.
Han, V.
Dosekova, P.
Gdovinova, Z.
Wagner, M.
Berutti, R.
Strom, T.
Havrankova, P.
Fecikova, A.
Laccone, F.
Jech, R.
Winkelmann, J.
MOVEMENT DISORDERS, 2019, 34 : S556 - S556
[29] Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity
Loid, Petra
Vuorela, Nina
Aaltonen, Kirsimari
Kuittinen, Juha
Makitie, Outi
HORMONE RESEARCH IN PAEDIATRICS, 2024,
[30] Bilateral globus pallidus internus deep brain stimulation after bilateral pallidotomy in a patient with generalized early-onset primary dystonia
Waln, Olga
Jankovic, Joseph
MOVEMENT DISORDERS, 2013, 28 (08) : 1162 - 1163

← 1 2 3 4 5 →