New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism

Richard L. Barbano, Deborah F. Hill, Beverly M. Snively, Laney S. Light, Niki Boggs, William Vaughn McCall, Mark Stacy, Laurie Ozelius, Kathleen J. Sweadner, Allison Brashear

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized. Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews. Results: In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder. Conclusions: The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease.

Original languageEnglish (US)
Pages (from-to)737-741
Number of pages5
JournalParkinsonism and Related Disorders
Volume18
Issue number6
DOIs
StatePublished - Jul 1 2012

Fingerprint

Dystonia
Psychiatry
Alcohols
Interviews
Phenotype
Dysarthria
Child Psychiatry
Mutation
Dystonia 12
Parkinsonian Disorders
Genetic Predisposition to Disease
Deglutition Disorders
Anxiety Disorders
Nuclear Family
Mood Disorders
Age of Onset
Italy
Leg
History
Mothers

Keywords

  • DYT-12
  • Dystonia
  • RDP
  • Rapid-onset dystonia-parkinsonism

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. / Barbano, Richard L.; Hill, Deborah F.; Snively, Beverly M.; Light, Laney S.; Boggs, Niki; McCall, William Vaughn; Stacy, Mark; Ozelius, Laurie; Sweadner, Kathleen J.; Brashear, Allison.

In: Parkinsonism and Related Disorders, Vol. 18, No. 6, 01.07.2012, p. 737-741.

Research output: Contribution to journalArticle

Barbano, RL, Hill, DF, Snively, BM, Light, LS, Boggs, N, McCall, WV, Stacy, M, Ozelius, L, Sweadner, KJ & Brashear, A 2012, 'New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism', Parkinsonism and Related Disorders, vol. 18, no. 6, pp. 737-741. https://doi.org/10.1016/j.parkreldis.2012.03.020
Barbano, Richard L. ; Hill, Deborah F. ; Snively, Beverly M. ; Light, Laney S. ; Boggs, Niki ; McCall, William Vaughn ; Stacy, Mark ; Ozelius, Laurie ; Sweadner, Kathleen J. ; Brashear, Allison. / New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. In: Parkinsonism and Related Disorders. 2012 ; Vol. 18, No. 6. pp. 737-741.
@article{ad5bb0fdb52d49a7a80d3878ec7239cf,
title = "New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism",
abstract = "Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized. Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews. Results: In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder. Conclusions: The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease.",
keywords = "DYT-12, Dystonia, RDP, Rapid-onset dystonia-parkinsonism",
author = "Barbano, {Richard L.} and Hill, {Deborah F.} and Snively, {Beverly M.} and Light, {Laney S.} and Niki Boggs and McCall, {William Vaughn} and Mark Stacy and Laurie Ozelius and Sweadner, {Kathleen J.} and Allison Brashear",
year = "2012",
month = "7",
day = "1",
doi = "10.1016/j.parkreldis.2012.03.020",
language = "English (US)",
volume = "18",
pages = "737--741",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "6",

}

TY - JOUR

T1 - New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism

AU - Barbano, Richard L.

AU - Hill, Deborah F.

AU - Snively, Beverly M.

AU - Light, Laney S.

AU - Boggs, Niki

AU - McCall, William Vaughn

AU - Stacy, Mark

AU - Ozelius, Laurie

AU - Sweadner, Kathleen J.

AU - Brashear, Allison

PY - 2012/7/1

Y1 - 2012/7/1

N2 - Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized. Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews. Results: In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder. Conclusions: The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease.

AB - Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized. Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews. Results: In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder. Conclusions: The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease.

KW - DYT-12

KW - Dystonia

KW - RDP

KW - Rapid-onset dystonia-parkinsonism

UR - http://www.scopus.com/inward/record.url?scp=84862183805&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862183805&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2012.03.020

DO - 10.1016/j.parkreldis.2012.03.020

M3 - Article

C2 - 22534615

AN - SCOPUS:84862183805

VL - 18

SP - 737

EP - 741

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

IS - 6

ER -