Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

D. A. Hall, E. Berry-Kravis, S. Jacquemont, C. D. Rice, J. Cogswell, Lin Zhang, Randi J Hagerman, Paul J Hagerman, Maureen A. Leehey

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

Original languageEnglish (US)
Pages (from-to)299-301
Number of pages3
JournalNeurology
Volume65
Issue number2 SUPPL. 1
DOIs
StatePublished - Jul 26 2005

Fingerprint

Intellectual Disability
Parkinsonian Disorders
Tremor
Ataxia
Dementia
Stroke
Guidelines
Genes
Fragile X Tremor Ataxia Syndrome

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Hall, D. A., Berry-Kravis, E., Jacquemont, S., Rice, C. D., Cogswell, J., Zhang, L., ... Leehey, M. A. (2005). Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology, 65(2 SUPPL. 1), 299-301. https://doi.org/10.1212/01.wnl.0000168900.86323.9c

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). / Hall, D. A.; Berry-Kravis, E.; Jacquemont, S.; Rice, C. D.; Cogswell, J.; Zhang, Lin; Hagerman, Randi J; Hagerman, Paul J; Leehey, Maureen A.

In: Neurology, Vol. 65, No. 2 SUPPL. 1, 26.07.2005, p. 299-301.

Research output: Contribution to journalArticle

Hall, D. A. ; Berry-Kravis, E. ; Jacquemont, S. ; Rice, C. D. ; Cogswell, J. ; Zhang, Lin ; Hagerman, Randi J ; Hagerman, Paul J ; Leehey, Maureen A. / Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). In: Neurology. 2005 ; Vol. 65, No. 2 SUPPL. 1. pp. 299-301.
@article{5151366a3e534411ae668cc1417dc778,
title = "Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)",
abstract = "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.",
author = "Hall, {D. A.} and E. Berry-Kravis and S. Jacquemont and Rice, {C. D.} and J. Cogswell and Lin Zhang and Hagerman, {Randi J} and Hagerman, {Paul J} and Leehey, {Maureen A.}",
year = "2005",
month = "7",
day = "26",
doi = "10.1212/01.wnl.0000168900.86323.9c",
language = "English (US)",
volume = "65",
pages = "299--301",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2 SUPPL. 1",

}

TY - JOUR

T1 - Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

AU - Hall, D. A.

AU - Berry-Kravis, E.

AU - Jacquemont, S.

AU - Rice, C. D.

AU - Cogswell, J.

AU - Zhang, Lin

AU - Hagerman, Randi J

AU - Hagerman, Paul J

AU - Leehey, Maureen A.

PY - 2005/7/26

Y1 - 2005/7/26

N2 - Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

AB - Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

UR - http://www.scopus.com/inward/record.url?scp=22544432855&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=22544432855&partnerID=8YFLogxK

U2 - 10.1212/01.wnl.0000168900.86323.9c

DO - 10.1212/01.wnl.0000168900.86323.9c

M3 - Article

C2 - 16043804

AN - SCOPUS:85026141310

VL - 65

SP - 299

EP - 301

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 2 SUPPL. 1

ER -