Atypical presentation of dopa-responsive dystonia in Taiwan

Brain and Behavior
Yi Ching WengYih Ru Wu

Abstract

The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa. The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation.

References

Dec 1, 1993·Nature Genetics·T G NygaardD E Weeks
Nov 5, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·P R JarmanN W Wood
May 29, 2000·Brain : a Journal of Neurology·J TassinA Brice
May 23, 2002·Journal of Neurology, Neurosurgery, and Psychiatry·D A GrimesA E Lang
Jun 22, 2002·Journal of Neural Transmission·Th MüllerW Kuhn
Apr 23, 2003·Archives of Neurology·Anne RomstadFlemming Güttler
Aug 2, 2003·Annals of Neurology·Masaya SegawaNobuyoshi Nishiyama
Dec 20, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·J L K Van HoveP Casaer
May 23, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Jens Ulrich RegulaHans-Michael Meinck
Sep 28, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·B ZirnU Müller
Apr 1, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·I Trender-GerhardK P Bhatia
Jan 29, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Xin LiuHui-Fang Shang
May 4, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Li CaoSheng-Di Chen
May 25, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F-Y HuD Zhou
Sep 19, 2012·Archives of Neurology·Vera TadicChristine Klein
Jul 6, 2014·Brain : a Journal of Neurology·Niccolò E MencacciUNKNOWN International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing

Software Mentioned

TRODAT

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Movement Disorders : Official Journal of the Movement Disorder Society
Eiichiro NagataNorihiro Suzuki
Chinese Medical Sciences Journal = Chung-kuo I Hsüeh K'o Hsüeh Tsa Chih
X Tang, Y Li
The Journal of Obstetrics and Gynaecology Research
Takashi WatanabeMitsuaki Suzuki
© 2022 Meta ULC. All rights reserved