Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum

被引:1
|
作者
Silva, Thiago Yoshinaga Tonholo [1 ,3 ]
Villela, Darine [2 ]
Cavalcanti, Thereza Taylanne Souza Loureiro [2 ]
Migliavacca, Michele Patricia [3 ]
Pedroso, Jose Luiz [1 ,3 ]
Barsottini, Orlando Graziani Povoas [1 ]
机构
[1] Univ Fed Sao Paulo, Dept Neurol, Ataxia Unit, Sao Paulo, SP, Brazil
[2] DASA, Diagnost Amer SA, Sao Paulo, SP, Brazil
[3] Hosp Israelita Albert Einstein, Brazi, SP, Brazil
关键词
Ataxia; Dystonia; Writer's cramp; COQ8A mutation; DYSTONIA-ATAXIA; DEFICIENCY;
D O I
10.1016/j.parkreldis.2023.105947
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页数:3
相关论文
共 50 条
  • [21] Cerebral and cerebellar activation in correlation to the action-induced dystonia in writer's cramp
    Odergren, T
    Stone-Elander, S
    Ingvar, M
    MOVEMENT DISORDERS, 1998, 13 (03) : 497 - 508
  • [22] PREVALENCE AND NEUROIMAGING CORRELATES OF CENTRAL ATAXIA IN CHILDHOOD-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS
    Lapa, A. T.
    Barbosa, R.
    MendonOa, I. N.
    Souza, M. C. F.
    Peres, F. A.
    Marini, R.
    Rittner, L.
    Franca, M., Jr.
    Bergo, F.
    Cendes, F.
    Appenzeller, S.
    ANNALS OF THE RHEUMATIC DISEASES, 2015, 74 : 1240 - 1240
  • [23] ATP1A3-related neurological disorders and cerebellar ataxia in childhood
    Ng, Joanne
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (01): : 12 - 13
  • [24] Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy
    Vedartham, Veena
    Sundaram, Soumya
    Nair, Sruthi S.
    Ganapathy, Aparna
    Mannan, Ashraf
    Menon, Ramshekhar
    OPHTHALMIC GENETICS, 2019, 40 (04) : 376 - 379
  • [25] HomozygousTAF1Cvariants are associated with a novel childhood-onset neurological phenotype
    Knuutinen, Oula
    Pyle, Angela
    Suo-Palosaari, Maria
    Duff, Jennifer
    Froukh, Tawfiq
    Lehesjoki, Anna-Elina
    Kangas, Salla M.
    Cassidy, James
    Maraqa, Latifa
    Keski-Filppula, Riikka
    Kokkonen, Hannaleena
    Uusimaa, Johanna
    Horvath, Rita
    Vieira, Paivi
    CLINICAL GENETICS, 2020, 98 (05) : 493 - 498
  • [26] TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
    Lindsey Van Haute
    Emily O’Connor
    Héctor Díaz-Maldonado
    Benjamin Munro
    Kiran Polavarapu
    Daniella H. Hock
    Gautham Arunachal
    Alkyoni Athanasiou-Fragkouli
    Mainak Bardhan
    Magalie Barth
    Dominique Bonneau
    Nicola Brunetti-Pierri
    Gerarda Cappuccio
    Nikeisha J. Caruana
    Natalia Dominik
    Himanshu Goel
    Guy Helman
    Henry Houlden
    Guy Lenaers
    Karine Mention
    David Murphy
    Bevinahalli Nandeesh
    Catarina Olimpio
    Christopher A. Powell
    Veeramani Preethish-Kumar
    Vincent Procaccio
    Rocio Rius
    Pedro Rebelo-Guiomar
    Cas Simons
    Seena Vengalil
    Maha S. Zaki
    Alban Ziegler
    David R. Thorburn
    David A. Stroud
    Reza Maroofian
    John Christodoulou
    Claes Gustafsson
    Atchayaram Nalini
    Hanns Lochmüller
    Michal Minczuk
    Rita Horvath
    Nature Communications, 14 (1)
  • [27] TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
    Van Haute, Lindsey
    O'Connor, Emily
    Diaz-Maldonado, Hector
    Munro, Benjamin
    Polavarapu, Kiran
    Hock, Daniella H.
    Arunachal, Gautham
    Athanasiou-Fragkouli, Alkyoni
    Bardhan, Mainak
    Barth, Magalie
    Bonneau, Dominique
    Brunetti-Pierri, Nicola
    Cappuccio, Gerarda
    Caruana, Nikeisha J.
    Dominik, Natalia
    Goel, Himanshu
    Helman, Guy
    Houlden, Henry
    Lenaers, Guy
    Mention, Karine
    Murphy, David
    Nandeesh, Bevinahalli
    Olimpio, Catarina
    Powell, Christopher A.
    Preethish-Kumar, Veeramani
    Procaccio, Vincent
    Rius, Rocio
    Rebelo-Guiomar, Pedro
    Simons, Cas
    Vengalil, Seena
    Zaki, Maha S.
    Ziegler, Alban
    Thorburn, David R.
    Stroud, David A.
    Maroofian, Reza
    Christodoulou, John
    Gustafsson, Claes
    Nalini, Atchayaram
    Lochmueller, Hanns
    Minczuk, Michal
    Horvath, Rita
    NATURE COMMUNICATIONS, 2023, 14 (01)
  • [28] Increased Cerebellar Grey Matter in Writer's Cramp Patients: A Morphometric Signature of Symptom Compensation
    Witt, K.
    Yogeswaran, V.
    Stalter, J.
    Knutzen, A.
    Baumann, A.
    Zeuner, K.
    MOVEMENT DISORDERS, 2024, 39 : S661 - S662
  • [29] TPP1 DEFICIENCY: RARE CAUSE OF ISOLATED CHILDHOOD-ONSET PROGRESSIVE ATAXIA
    Dy, Marisela E.
    Sims, Katherine B.
    Friedman, Jennifer
    NEUROLOGY, 2015, 85 (14) : 1259 - 1261
  • [30] A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5
    Park, J.
    Seok, J.
    MOVEMENT DISORDERS, 2022, 37 : S214 - S214