Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

被引：13

作者：

Ciaccio, Claudia ^{[1
]}

Caste, Raffaele ^{[2
]}

Esposito, Silvia ^{[1
]}

Pinelli, Michele ^{[2
,3
]}

Nigro, Vincenzo ^{[2
,4
]}

Casari, Giorgio ^{[2
,5
]}

Chiapparini, Luisa ^{[6
]}

Pantaleoni, Chiara ^{[1
]}

D'Arrigo, Stefano ^{[1
]}

Torella, Annalaura ^{[2
,4
]}

Cappuccio, Gerarda ^{[2
,3
]}

Musacchia, Francesco ^{[2
]}

Mutarelli, Margherita ^{[2
]}

Carrella, Diego ^{[2
]}

Vitiello, Giuseppina ^{[2
,3
,7
]}

Parenti, Giancarlo ^{[2
,3
]}

Capra, Valeria ^{[8
]}

Leuzzi, Vincenzo ^{[9
]}

Selicorni, Angelo ^{[7
]}

Maitz, Silvia ^{[10
]}

Brunetti-Pierri, Nicola ^{[2
,3
]}

Banfi, Sandro ^{[2
,4
]}

Zollino, Marcella ^{[11
]}

Montomoli, Martino ^{[12
]}

Milani, Donatella ^{[13
]}

Romano, Corrado ^{[14
]}

Tummolo, Albina ^{[15
]}

De Brasi, Daniele ^{[16
]}

Coppola, Antonietta ^{[17
]}

Santoro, Claudia ^{[4
]}

机构：

[1] Fdn IRCCS Ist Neurol Carlo Besta, Dev Neurol Unit, Via Celoria 11, I-20133 Milan, Italy

[2] Telethon Inst Genet & Med, Naples, Italy

[3] Univ Naples Federico II, Dept Translat Med, Sect Pediat, Naples, Italy

[4] Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy

[5] Univ Vita Salute San Raffaele, Milan, Italy

[6] Fdn IRCCS Ist Neurol Carlo Besta, Neuroradiol Dept, Milan, Italy

[7] ASST Lariana St Anna Hosp, Dept Pediat, San Fermo Della Battagli, Como, Italy

[8] Giannina Gaslini Inst, Neurosci Dept, Genoa, Italy

[9] Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy

[10] Fdn MBBM, Monza, Italy

[11] Catholic Univ, Gemelli Hosp Fdn, Inst Genom Med, Rome, Italy

[12] Univ Florence, A Meyer Childrens Hosp, Neurosci Dept 10, Pediat Neurol Neurogenet & Neurobiol Unit & Labs, Florence, Italy

[13] Osped Maggiore Policlin, Pediat Highly Intens Care Unit, Fdn IRCCS Ca Granda, Milan, Italy

[14] Oasi Res Inst IRCCS, Troina, Italy

[15] Giovanni XXIII Childrens Hosp, Dept Metab Dis Clin Genet & Diabetol, Bari, Italy

[16] AORN Santobono Pausilipon, Dept Pediat, Naples, Italy

[17] Univ Naples Federico II, Federico 2, Epilepsy Ctr, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy

来源：

CEREBELLUM | 2019年 / 18卷 / 05期

关键词：

Pediatric ataxia; Spinocerebellar ataxia; SCAR23; TDP2; Cerebellar atrophy;

D O I：

10.1007/s12311-019-01069-7

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a novel mutation in the same gene, thus confirming the role of TDP2 mutations in determining the disease and defining the main features SCAR23: pediatric onset ataxia and drug-resistant epilepsy and intellectual disability. We further show the clinical presentation which is associated with the neuroradiological evidence of progressive cerebellar atrophy, giving the evidence that SCAR23 can be classified as a degenerative condition.

引用

页码：972 / 975

页数：4

共 4 条

[1] Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)
Claudia Ciaccio
Raffaele Castello
Silvia Esposito
Michele Pinelli
Vincenzo Nigro
Giorgio Casari
Luisa Chiapparini
Chiara Pantaleoni
Stefano D’Arrigo
The Cerebellum, 2019, 18 : 972 - 975
[2] Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Zagnoli-Vieira, Guido
Bruni, Francesco
Thompson, Kyle
He, Langping
Walker, Sarah
de Brouwer, Arjan P. M.
Taylor, Robert
Niyazov, Dmitriy
Caldecott, Keith W.
NEUROLOGY-GENETICS, 2018, 4 (04)
[3] Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) (vol 4, e262, 2018)
Zagnoli-Vieira, G.
Bruni, F.
Thompson, K.
NEUROLOGY-GENETICS, 2018, 4 (05)
[4] Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Edoardo Errichiello
Guido Zagnoli-Vieira
Romana Rizzi
Livia Garavelli
Keith W. Caldecott
Orsetta Zuffardi
Journal of Human Genetics, 2020, 65 : 1135 - 1141

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