JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family

Susanne A. Schneider, Kate E. Marshall, Jianfeng Xiao, Mark Ledoux

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

We report the clinical, neuropsychological, genetic, and radiological features of a large five-generation African-American kindred from the southern USA presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in junctophillin 3 (JPH3). Overt disease onset was in the mid-20s to late 30s with cognitive decline, REM sleep disturbance, or psychiatric features, followed by development of a levodopaunresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.Moreover, choreamay not be overtly manifest at presentation or during significant parts of the disease course.

Original languageEnglish (US)
Pages (from-to)133-140
Number of pages8
JournalNeurogenetics
Volume13
Issue number2
DOIs
StatePublished - May 1 2012

Fingerprint

African Americans
Dementia
Corpus Striatum
Chorea
Mutation
REM Sleep
Atrophy
Psychiatry
Differential Diagnosis
Myoclonic dystonia
Cognitive Dysfunction

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics

Cite this

JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family. / Schneider, Susanne A.; Marshall, Kate E.; Xiao, Jianfeng; Ledoux, Mark.

In: Neurogenetics, Vol. 13, No. 2, 01.05.2012, p. 133-140.

Research output: Contribution to journalArticle

@article{36a08e32afa7471e96bbbe029a5aa360,
title = "JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family",
abstract = "We report the clinical, neuropsychological, genetic, and radiological features of a large five-generation African-American kindred from the southern USA presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in junctophillin 3 (JPH3). Overt disease onset was in the mid-20s to late 30s with cognitive decline, REM sleep disturbance, or psychiatric features, followed by development of a levodopaunresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.Moreover, choreamay not be overtly manifest at presentation or during significant parts of the disease course.",
author = "Schneider, {Susanne A.} and Marshall, {Kate E.} and Jianfeng Xiao and Mark Ledoux",
year = "2012",
month = "5",
day = "1",
doi = "10.1007/s10048-012-0318-9",
language = "English (US)",
volume = "13",
pages = "133--140",
journal = "Neurogenetics",
issn = "1364-6745",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - JPH3 repeat expansions cause a progressive akinetic-rigid syndrome with severe dementia and putaminal rim in a five-generation African-American family

AU - Schneider, Susanne A.

AU - Marshall, Kate E.

AU - Xiao, Jianfeng

AU - Ledoux, Mark

PY - 2012/5/1

Y1 - 2012/5/1

N2 - We report the clinical, neuropsychological, genetic, and radiological features of a large five-generation African-American kindred from the southern USA presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in junctophillin 3 (JPH3). Overt disease onset was in the mid-20s to late 30s with cognitive decline, REM sleep disturbance, or psychiatric features, followed by development of a levodopaunresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.Moreover, choreamay not be overtly manifest at presentation or during significant parts of the disease course.

AB - We report the clinical, neuropsychological, genetic, and radiological features of a large five-generation African-American kindred from the southern USA presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in junctophillin 3 (JPH3). Overt disease onset was in the mid-20s to late 30s with cognitive decline, REM sleep disturbance, or psychiatric features, followed by development of a levodopaunresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent.Moreover, choreamay not be overtly manifest at presentation or during significant parts of the disease course.

UR - http://www.scopus.com/inward/record.url?scp=84862672230&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84862672230&partnerID=8YFLogxK

U2 - 10.1007/s10048-012-0318-9

DO - 10.1007/s10048-012-0318-9

M3 - Article

VL - 13

SP - 133

EP - 140

JO - Neurogenetics

JF - Neurogenetics

SN - 1364-6745

IS - 2

ER -