A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course-Reference-Cited by-同舟云学术

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

Published:2018-01 Issue: Volume:46 Page:87-89
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Kuwabara Kozue,Kawarai Toshitaka^ORCID,Ishida Yasushi,Miyamoto Ryosuke,Oki Ryosuke,Orlacchio Antonio,Nomura Yoshiko,Fukuda Mitsumasa,Ishii Eiichi,Shintaku Haruo,Kaji Ryuji

Funder

Tokushima University School of Medicine

Health and Labour Science Research

Ministry of Health, Labour and Welfare, Japan

Italian Ministero della Salute

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. Dopa-responsive dystonia–clinical and genetic heterogeneity;Wijemanne;Nat. Rev. Neurol.,2015

2. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia;Hoffmann;Ann. Neurol.,2003

3. Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia;Fossbakk;Hum. Mutat.,2014

4. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder;Janssen;Ann. Hum. Genet.,2000

5. Altered dopaminergic profile in the putamen and substantia nigra in restless leg syndrome;Connor;Brain,2009

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2. Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1;Journal of Inherited Metabolic Disease;2023-12-12

3. Segawa syndrome caused by TH gene mutation and its mechanism;Frontiers in Genetics;2022-12-08

4. Dopa-Responsive Dystonia and Related Disorders;Movement Disorder Emergencies;2021-10-03