Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs
Abstract Objectives In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phen...
Main Authors: | , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2019-07-01
|
Series: | Brain and Behavior |
Subjects: | |
Online Access: | https://doi.org/10.1002/brb3.1337 |
id |
doaj-c6e2f0e871154afc9b405d1ea066c0c4 |
---|---|
record_format |
Article |
spelling |
doaj-c6e2f0e871154afc9b405d1ea066c0c42020-11-25T03:48:04ZengWileyBrain and Behavior2162-32792019-07-0197n/an/a10.1002/brb3.1337Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signsJi‐Hyung Park0Wooyoung Jang1Jinyoung Youn2Chang‐Seok Ki3Byoung Joon Kim4Hee‐Tae Kim5Elan D. Louis6Jin Whan Cho7Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of KoreaDepartment of Neurology Gangneung Asan Hospital, University of Ulsan College of Medicine Gangneung‐si Republic of KoreaDepartment of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of KoreaDepartment of Laboratory Medicine and Genetics Samsung Medical Center, Sungkyunkwan University School of Medicine Seoul Republic of KoreaDepartment of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of KoreaDepartment of Neurology, College of Medicine Hanyang University Seoul Republic of KoreaDivision of Movement Disorders, Department of Neurology Yale School of Medicine, Yale University New Haven ConnecticutDepartment of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of KoreaAbstract Objectives In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X‐associated tremor/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS. Materials and Methods From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, FMR1 mutation analysis and brain magnetic resonance imaging were performed. Results Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. FMR1 CGG repeat analysis was performed in 74 of 168 patients. Fifty‐two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a FMR1 premutation and fulfiled both clinical and radiological criteria of FXTAS. Conclusions Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS.https://doi.org/10.1002/brb3.1337cerebellar signsessential tremorextrapyramidal signsFMR1 premutationfragile X‐associated tremor/ataxia syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ji‐Hyung Park Wooyoung Jang Jinyoung Youn Chang‐Seok Ki Byoung Joon Kim Hee‐Tae Kim Elan D. Louis Jin Whan Cho |
spellingShingle |
Ji‐Hyung Park Wooyoung Jang Jinyoung Youn Chang‐Seok Ki Byoung Joon Kim Hee‐Tae Kim Elan D. Louis Jin Whan Cho Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs Brain and Behavior cerebellar signs essential tremor extrapyramidal signs FMR1 premutation fragile X‐associated tremor/ataxia syndrome |
author_facet |
Ji‐Hyung Park Wooyoung Jang Jinyoung Youn Chang‐Seok Ki Byoung Joon Kim Hee‐Tae Kim Elan D. Louis Jin Whan Cho |
author_sort |
Ji‐Hyung Park |
title |
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
title_short |
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
title_full |
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
title_fullStr |
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
title_full_unstemmed |
Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
title_sort |
prevalence of fragile x‐associated tremor/ataxia syndrome: a survey of essential tremor patients with cerebellar signs or extrapyramidal signs |
publisher |
Wiley |
series |
Brain and Behavior |
issn |
2162-3279 |
publishDate |
2019-07-01 |
description |
Abstract Objectives In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X‐associated tremor/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS. Materials and Methods From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, FMR1 mutation analysis and brain magnetic resonance imaging were performed. Results Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. FMR1 CGG repeat analysis was performed in 74 of 168 patients. Fifty‐two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a FMR1 premutation and fulfiled both clinical and radiological criteria of FXTAS. Conclusions Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS. |
topic |
cerebellar signs essential tremor extrapyramidal signs FMR1 premutation fragile X‐associated tremor/ataxia syndrome |
url |
https://doi.org/10.1002/brb3.1337 |
work_keys_str_mv |
AT jihyungpark prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT wooyoungjang prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT jinyoungyoun prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT changseokki prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT byoungjoonkim prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT heetaekim prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT elandlouis prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns AT jinwhancho prevalenceoffragilexassociatedtremorataxiasyndromeasurveyofessentialtremorpatientswithcerebellarsignsorextrapyramidalsigns |
_version_ |
1724500367748628480 |