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

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

Abstract 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 cerebe...

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Main Authors: Christopher M. McGraw, Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor, Trevor Resnick, Lance Rodan, Marc A. Schwartz, Ayesha Ejaz, Vijay G. Sankaran, Gerard Berry, Annapurna Poduri
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51272
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spelling doaj-550a534e623a44308970ca305604b3e02021-05-03T04:21:30ZengWileyAnnals of Clinical and Translational Neurology2328-95032021-03-018371672210.1002/acn3.51272Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two SiblingsChristopher M. McGraw0Sonal Mahida1Parul Jayakar2Hyun Yong Koh3Alan Taylor4Trevor Resnick5Lance Rodan6Marc A. Schwartz7Ayesha Ejaz8Vijay G. Sankaran9Gerard Berry10Annapurna Poduri11Epilepsy Massachusetts General Hospital Boston MassachusettsUSAEpilepsy Genetics Program Boston Children’s Hospital Boston MassachusettsUSADivision of Genetics and Metabolism Nicklaus Children’s Hospital Miami FloridaUSAEpilepsy Genetics Program Boston Children’s Hospital Boston MassachusettsUSAEpilepsy Genetics Program Boston Children’s Hospital Boston MassachusettsUSADivision of Pediatric Neurology Miami Children’s Hospital Miami FloridaUSADepartment of Neurology Harvard Medical School Boston MassachusettsUSADivision of Hematology/Oncology Boston Children’s Hospital Boston MassachusettsUSADivision of Hematology/Oncology Boston Children’s Hospital Boston MassachusettsUSADivision of Hematology/Oncology Boston Children’s Hospital Boston MassachusettsUSADivision of Genetics and Genomics Boston Children’s Hospital Boston MassachusettsUSADepartment of Neurology Harvard Medical School Boston MassachusettsUSAAbstract 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.https://doi.org/10.1002/acn3.51272
collection DOAJ
language English
format Article
sources DOAJ
author Christopher M. McGraw
Sonal Mahida
Parul Jayakar
Hyun Yong Koh
Alan Taylor
Trevor Resnick
Lance Rodan
Marc A. Schwartz
Ayesha Ejaz
Vijay G. Sankaran
Gerard Berry
Annapurna Poduri
spellingShingle Christopher M. McGraw
Sonal Mahida
Parul Jayakar
Hyun Yong Koh
Alan Taylor
Trevor Resnick
Lance Rodan
Marc A. Schwartz
Ayesha Ejaz
Vijay G. Sankaran
Gerard Berry
Annapurna Poduri
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
Annals of Clinical and Translational Neurology
author_facet Christopher M. McGraw
Sonal Mahida
Parul Jayakar
Hyun Yong Koh
Alan Taylor
Trevor Resnick
Lance Rodan
Marc A. Schwartz
Ayesha Ejaz
Vijay G. Sankaran
Gerard Berry
Annapurna Poduri
author_sort Christopher M. McGraw
title 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_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_sort uridine‐responsive epileptic encephalopathy due to inherited variants in cad: a tale of two siblings
publisher Wiley
series Annals of Clinical and Translational Neurology
issn 2328-9503
publishDate 2021-03-01
description Abstract 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.
url https://doi.org/10.1002/acn3.51272
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