ATP1A3 mutations in infants: A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

Allison Brashear, Jonathan W. Mink, Deborah F. Hill, Niki Boggs, William Vaughn McCall, Mark A. Stacy, Beverly Snively, Laney S. Light, Kathleen J. Sweadner, Laurie J. Ozelius, Leslie Morrison

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14months and pre-existing motor delay. At age 4years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.

Original languageEnglish (US)
Pages (from-to)1065-1067
Number of pages3
JournalDevelopmental Medicine and Child Neurology
Volume54
Issue number11
DOIs
StatePublished - Nov 1 2012
Externally publishedYes

Fingerprint

Ataxia
Muscle Hypotonia
Phenotype
Mutation
Dystonia
Deglutition
Mutism
Sialorrhea
Dysarthria
Deglutition Disorders
Diagnostic Errors
Gait
Genes
Seizures
Parents
Dystonia 12

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

ATP1A3 mutations in infants : A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. / Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, William Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie.

In: Developmental Medicine and Child Neurology, Vol. 54, No. 11, 01.11.2012, p. 1065-1067.

Research output: Contribution to journalArticle

Brashear, A, Mink, JW, Hill, DF, Boggs, N, McCall, WV, Stacy, MA, Snively, B, Light, LS, Sweadner, KJ, Ozelius, LJ & Morrison, L 2012, 'ATP1A3 mutations in infants: A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia', Developmental Medicine and Child Neurology, vol. 54, no. 11, pp. 1065-1067. https://doi.org/10.1111/j.1469-8749.2012.04421.x
Brashear, Allison ; Mink, Jonathan W. ; Hill, Deborah F. ; Boggs, Niki ; McCall, William Vaughn ; Stacy, Mark A. ; Snively, Beverly ; Light, Laney S. ; Sweadner, Kathleen J. ; Ozelius, Laurie J. ; Morrison, Leslie. / ATP1A3 mutations in infants : A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. In: Developmental Medicine and Child Neurology. 2012 ; Vol. 54, No. 11. pp. 1065-1067.
@article{f797794be5b24973ab40b0bccb33a257,
title = "ATP1A3 mutations in infants: A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia",
abstract = "We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14months and pre-existing motor delay. At age 4years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.",
author = "Allison Brashear and Mink, {Jonathan W.} and Hill, {Deborah F.} and Niki Boggs and McCall, {William Vaughn} and Stacy, {Mark A.} and Beverly Snively and Light, {Laney S.} and Sweadner, {Kathleen J.} and Ozelius, {Laurie J.} and Leslie Morrison",
year = "2012",
month = "11",
day = "1",
doi = "10.1111/j.1469-8749.2012.04421.x",
language = "English (US)",
volume = "54",
pages = "1065--1067",
journal = "Developmental Medicine and Child Neurology",
issn = "0012-1622",
publisher = "Wiley-Blackwell",
number = "11",

}

TY - JOUR

T1 - ATP1A3 mutations in infants

T2 - A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

AU - Brashear, Allison

AU - Mink, Jonathan W.

AU - Hill, Deborah F.

AU - Boggs, Niki

AU - McCall, William Vaughn

AU - Stacy, Mark A.

AU - Snively, Beverly

AU - Light, Laney S.

AU - Sweadner, Kathleen J.

AU - Ozelius, Laurie J.

AU - Morrison, Leslie

PY - 2012/11/1

Y1 - 2012/11/1

N2 - We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14months and pre-existing motor delay. At age 4years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.

AB - We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14months and pre-existing motor delay. At age 4years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.

UR - http://www.scopus.com/inward/record.url?scp=84867232035&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867232035&partnerID=8YFLogxK

U2 - 10.1111/j.1469-8749.2012.04421.x

DO - 10.1111/j.1469-8749.2012.04421.x

M3 - Article

C2 - 22924536

AN - SCOPUS:84867232035

VL - 54

SP - 1065

EP - 1067

JO - Developmental Medicine and Child Neurology

JF - Developmental Medicine and Child Neurology

SN - 0012-1622

IS - 11

ER -