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

TUDP Study Group

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
JournalCerebellum
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Spinocerebellar Ataxias
Intellectual Disability
Pediatrics
Mutation
Ataxia
Genes
Atrophy
Drug Resistant Epilepsy
Spinocerebellar ataxia 23

Keywords

  • Cerebellar atrophy
  • Pediatric ataxia
  • SCAR23
  • Spinocerebellar ataxia
  • TDP2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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title = "Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)",
abstract = "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.",
keywords = "Cerebellar atrophy, Pediatric ataxia, SCAR23, Spinocerebellar ataxia, TDP2",
author = "{TUDP Study Group} and Claudia Ciaccio and Raffaele Castello and Silvia Esposito and Michele Pinelli and Vincenzo Nigro and Giorgio Casari and Luisa Chiapparini and Chiara Pantaleoni and Annalaura Torella and Gerarda Cappuccio and Francesco Musacchia and Margherita Mutarelli and Diego Carrella and Giuseppina Vitiello and Giancarlo Parenti and Valeria Capra and Vincenzo Leuzzi and Angelo Selicorni and Silvia Maitz and Nicola Brunetti-Pierri and Sandro Banfi and Marcella Zollino and Martino Montomoli and Donatella Milani and Corrado Romano and Albina Tummolo and {De Brasi}, Daniele and Antonietta Coppola and Claudia Santoro and Stefano D’Arrigo",
year = "2019",
month = "1",
day = "1",
doi = "10.1007/s12311-019-01069-7",
language = "English",
journal = "Cerebellum",
issn = "1473-4222",
publisher = "Springer New York",

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T1 - Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

AU - TUDP Study Group

AU - Ciaccio, Claudia

AU - Castello, Raffaele

AU - Esposito, Silvia

AU - Pinelli, Michele

AU - Nigro, Vincenzo

AU - Casari, Giorgio

AU - Chiapparini, Luisa

AU - Pantaleoni, Chiara

AU - Torella, Annalaura

AU - Cappuccio, Gerarda

AU - Musacchia, Francesco

AU - Mutarelli, Margherita

AU - Carrella, Diego

AU - Vitiello, Giuseppina

AU - Parenti, Giancarlo

AU - Capra, Valeria

AU - Leuzzi, Vincenzo

AU - Selicorni, Angelo

AU - Maitz, Silvia

AU - Brunetti-Pierri, Nicola

AU - Banfi, Sandro

AU - Zollino, Marcella

AU - Montomoli, Martino

AU - Milani, Donatella

AU - Romano, Corrado

AU - Tummolo, Albina

AU - De Brasi, Daniele

AU - Coppola, Antonietta

AU - Santoro, Claudia

AU - D’Arrigo, Stefano

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

KW - Cerebellar atrophy

KW - Pediatric ataxia

KW - SCAR23

KW - Spinocerebellar ataxia

KW - TDP2

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