Screening study of TUBB4A in isolated dystonia

Franca Vulinovic; Susen Schaake; Aloysius Domingo; Kishore Raj Kumar; Giovanni Defazio; Pablo Mir; Kristina Simonyan; Laurie J. Ozelius; Norbert Brüggemann; Sun Ju Chung; Aleksandar Rakovic; Katja Lohmann; Christine Klein

doi:10.1016/j.parkreldis.2017.06.001

Screening study of TUBB4A in isolated dystonia

Franca Vulinovic, Susen Schaake, Aloysius Domingo, Kishore Raj Kumar, Giovanni Defazio, Pablo Mir, Kristina Simonyan, Laurie J. Ozelius, Norbert Brüggemann, Sun Ju Chung, Aleksandar Rakovic, Katja Lohmann, Christine Klein

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.

Original language	English
Pages (from-to)	118-120
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	41
DOIs	https://doi.org/10.1016/j.parkreldis.2017.06.001
State	Published - Aug 2017

Keywords

Dystonia
H-ABC
Leukodystrophy
TUBB4A

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title = "Screening study of TUBB4A in isolated dystonia",

abstract = "Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.",

keywords = "Dystonia, H-ABC, Leukodystrophy, TUBB4A",

author = "Franca Vulinovic and Susen Schaake and Aloysius Domingo and Kumar, {Kishore Raj} and Giovanni Defazio and Pablo Mir and Kristina Simonyan and Ozelius, {Laurie J.} and Norbert Br{\"u}ggemann and Chung, {Sun Ju} and Aleksandar Rakovic and Katja Lohmann and Christine Klein",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Ltd",

year = "2017",

month = aug,

doi = "10.1016/j.parkreldis.2017.06.001",

language = "English",

volume = "41",

pages = "118--120",

journal = "Parkinsonism and Related Disorders",

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T1 - Screening study of TUBB4A in isolated dystonia

AU - Vulinovic, Franca

AU - Schaake, Susen

AU - Domingo, Aloysius

AU - Kumar, Kishore Raj

AU - Defazio, Giovanni

AU - Mir, Pablo

AU - Simonyan, Kristina

AU - Ozelius, Laurie J.

AU - Brüggemann, Norbert

AU - Chung, Sun Ju

AU - Rakovic, Aleksandar

AU - Lohmann, Katja

AU - Klein, Christine

PY - 2017/8

Y1 - 2017/8

N2 - Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.

AB - Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.

KW - Dystonia

KW - H-ABC

KW - Leukodystrophy

KW - TUBB4A

UR - http://www.scopus.com/inward/record.url?scp=85021253584&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2017.06.001

DO - 10.1016/j.parkreldis.2017.06.001

M3 - Article

C2 - 28655586

AN - SCOPUS:85021253584

SN - 1353-8020

VL - 41

SP - 118

EP - 120

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

Screening study of TUBB4A in isolated dystonia

Abstract

Keywords

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