PRKRA ‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum-Reference-Cited by-同舟云学术

PRKRA ‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum

Published:2021-02-19 Issue:4 Volume:36 Page:1038-1040
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Masnada Silvia¹^ORCID,Martinelli Diego²,Correa‐Vela Marta³^ORCID,Agolini Emanuele⁴,Baide‐Mairena Heidy³,Marcé‐Grau Anna³,Parazzini Cecilia⁵,Veggiotti Pierangelo¹⁶,Perez‐Duenas Belen⁷⁸⁹^ORCID,Tonduti Davide¹^ORCID

Affiliation:

1. Child Neurology Unit COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital Milan Italy

2. Division of Metabolism, Bambino Gesù Children's Hospital IRCCS Rome Italy

3. Paediatric Neurology Research Group Valld'Hebron Research Institute, Universitat Autònoma de Barcelona Barcelona Spain

4. Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS Rome Italy

5. Paediatric Radiology and Neuroradiology Department COALA (Center for Diagnosis and Treatment of Leukodystrophies)—V. Buzzi Children's Hospital Milan Italy

6. Department of Biomedical and Clinical Sciences, L. Sacco University of Milan Milan Italy

7. Department of Child Neurology Hospital Valld'Hebron—Institut de Recerca (VHIR) Barcelona Spain

8. CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras Madrid Spain

9. Faculty of Medicine Universitat Autònoma de Barcelona, UnitatDocentValld'Hebrón Barcelona Spain

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28492

Reference9 articles.

1. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

2. A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities

3. Novel compound heterozygous mutations in PRKRA cause pure dystonia

4. Thiamine and dystonia 16;Costantini A;BMJ Case Rep,2016

5. DYT16: the original cases: Figure 1

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1. Luteolin protects DYT-PRKRA cells from apoptosis by suppressing PKR activation;Frontiers in Pharmacology;2023-02-15

2. Dystonia and Parkinson’s disease: Do they have a shared biology?;International Review of Neurobiology;2023

3. Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes;Frontiers in Genetics;2022-09-14

5. Early-Onset Dystonia, Exacerbation With Fever, and Striatal Signal Changes;Neurology;2022-06-03