Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atro...

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Autores principales: McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://www.ncbi.nlm.nih.gov/pubmed/33497533
http://dx.doi.org/10.1002/acn3.51272
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author McGraw, Christopher M.
Mahida, Sonal
Jayakar, Parul
Koh, Hyun Yong
Taylor, Alan
Resnick, Trevor
Rodan, Lance
Schwartz, Marc A.
Ejaz, Ayesha
Sankaran, Vijay G.
Berry, Gerard
Poduri, Annapurna
author_facet McGraw, Christopher M.
Mahida, Sonal
Jayakar, Parul
Koh, Hyun Yong
Taylor, Alan
Resnick, Trevor
Rodan, Lance
Schwartz, Marc A.
Ejaz, Ayesha
Sankaran, Vijay G.
Berry, Gerard
Poduri, Annapurna
author_sort McGraw, Christopher M.
collection PubMed
description We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atrophy, and resolution of hematological abnormalities. Her older brother had a more severe course and only modest response to uridine started at 14 years old. Treatment of this progressive condition via uridine supplementation provides an example of precision diagnosis and treatment using clear outcome measures and biomarkers to monitor efficacy.
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spelling pubmed-79511042021-03-17 Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings McGraw, Christopher M. Mahida, Sonal Jayakar, Parul Koh, Hyun Yong Taylor, Alan Resnick, Trevor Rodan, Lance Schwartz, Marc A. Ejaz, Ayesha Sankaran, Vijay G. Berry, Gerard Poduri, Annapurna Ann Clin Transl Neurol Case Study We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atrophy, and resolution of hematological abnormalities. Her older brother had a more severe course and only modest response to uridine started at 14 years old. Treatment of this progressive condition via uridine supplementation provides an example of precision diagnosis and treatment using clear outcome measures and biomarkers to monitor efficacy. John Wiley and Sons Inc. 2021-01-26 /pmc/articles/PMC7951104/ /pubmed/33497533 http://dx.doi.org/10.1002/acn3.51272 Text en © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Study
McGraw, Christopher M.
Mahida, Sonal
Jayakar, Parul
Koh, Hyun Yong
Taylor, Alan
Resnick, Trevor
Rodan, Lance
Schwartz, Marc A.
Ejaz, Ayesha
Sankaran, Vijay G.
Berry, Gerard
Poduri, Annapurna
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title_full Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title_fullStr Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title_full_unstemmed Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title_short Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
title_sort uridine‐responsive epileptic encephalopathy due to inherited variants in cad: a tale of two siblings
topic Case Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://www.ncbi.nlm.nih.gov/pubmed/33497533
http://dx.doi.org/10.1002/acn3.51272
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