Table 3.

ATN1-Related Neurodevelopmental Disorder: Literature Review of Brain Imaging and Developmental Features

Individual
[Reference]
Imaging FindingsAge at Last ReviewDevelopmentEpilepsy
(Seizure Control)
1 [Palmer et al 2019]Parenchymal atrophy, unilateral periventricular leukomalacia, left cerebellar hyperintensity3 yrsNo head control, cannot roll; nonverbalLennox Gastaut syndrome, onset age 12 mos
2 [Palmer et al 2019]Perisylvian polymicrogyria, parenchymal atrophy, thin corpus callosum, absent falx cerebri1 yrRolls to side, coosNo seizures
3 [Palmer et al 2019]Normal5 yrsWalks a few steps unaided, holds small objects, speaks single wordsNo seizures
4 [Palmer et al 2019]Normal7 yrsSits w/support, grasps objects; nonverbalInfantile spasms (control w/2 ASMs)
5 [Palmer et al 2019]Perisylvian polymicrogyria, thin corpus callosum, partially absent falx cerebri, parenchymal atrophy9 yrsImmobile, nonverbal(control w/monotherapy)
6 [Palmer et al 2019]Vermian hypoplasia4 yrsSits w/support; nonverbalNeonatal-onset DEE (intractable to ASM)
7 [Palmer et al 2019]Perisylvian polymicrogyria, thin corpus callosum, absent falx cerebri5 yrsSits w/support, grasps objects, babblesDEE, onset age 7 mos (control w/monotherapy)
8 [Palmer et al 2019]Polymicrogyria of right sylvian fissure, vermian hypoplasia, thin corpus callosum2 mosNo motor ability; nonverbalNo seizures
9 [Palmer et al 2021]Normal3 yrs, 6 mosCrawls & pulls to stand, no clear wordsNo seizures
10 [Palmer et al 2021]Normal (mild prominence of subarachnoid fluid compartment)3 yrs, 6 mosSits w/minimal support, commando crawls, able to finger feed; no clear words but will yell to get parents' attnDiagnosed at 3 yrs, 6 mos (control w/monotherapy)
11 [Palmer et al 2021]Malformations consistent w/Dandy-Walker spectrum (mild)2 yrs, 6 mosSits unassisted, good head control, stands w/support, uses wheelchair for mobility; babbles & coosInfantile spasms (control w/monotherapy)
12 [Palmer et al 2021]Normal2 yrs, 2 mosWalking independently, fine motor improved to just below avg w/early intervention; mild expressive language delayNo seizures
13 [Palmer et al 2021]Cerebral parenchymal atrophy, cerebellar vermian hypoplasia, thin corpus callosum17 yrsHead control but unable to sit w/o support; nonverbalNo seizures
14 [Palmer et al 2021]Pontine hypoplasia, dysplastic tectum, thin corpus callosum, global cerebral brain atrophy, prominent subarachnoid spaces & ventricles2 yrsDoes not have independent head control against gravity; no grasping or holding toys; nonverbal, can make whimpering sounds when upsetDiagnosed as neonate
15 [Palmer et al 2021]Generalized parenchymal volume loss, thin corpus callosum, enlargement of prepontine & suprasellar cisterns, small hippocampi, & other abnormalities3 yrs, 3 mosCan roll over, unable to sit w/o support, limited fine motor skills; nonspecific verbalizationsOnset 6 mos, → DEE by 16 mos (control w/multiple ASMs)
16 [Palmer et al 2021]Dysgenesis of corpus callosum, callosal lipoma, hypoplasia of inferior vermis of cerebellum, dysmorphic brain stem w/small pons6 mosCannot roll, limited head control, can bring hands to midline; nonverbalNo seizures
17 [Palmer et al 2021]Asymmetric cerebral hemisphere, large lateral ventricle, atrophy13 yrs, 6 mosSitting, stands w/aid, uses wheelchair for mobility, grasps objects; few words, communicates w/gesturesOne seizure w/febrile illness at age 12 yrs
18 [Shiyue et al 2022]Hypoplasia of left cerebellar hemisphere & delayed myelination7 mos, 16 daysCan raise head, unable to sit independently or grasp objects; no words or clear babbleNo seizures

ASM = anti-seizure medication; DEE = developmental and epileptic encephalopathy

From: ATN1-Related Neurodevelopmental Disorder

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.