Article type: Letter to Editor
Article
title: Dopa-responsive
dystonia: guanosine triphosphate cyclohydrolase 1, tyrosine hydroxylase, and
sepiapterin reductase
Journal: Ibnosina
Journal of Medicine and Biomedical Sciences
Year: 2021
Authors: Jamir Pitton Rissardo, Ana Letícia Fornari
Caprara
E-mail: jamirrissardo@gmail.com
ABSTRACT
DRD is a very rare (1 in 1 million people) inherited
type of dystonia that typically begins during childhood but may begin in
adolescence or adulthood. DRD may be caused by the mutations in the guanosine
triphosphate cyclohydrolase 1, tyrosine hydroxylase (TH), SPR genes, or the
cause may be unknown. These genes are related to the enzymes that are
associated with a common pathway responsible for the production of dopamine and
serotonin (TH is not related). The deficiency of dopamine can lead to a disbalance
on the nigrostriatal area leading to dystonia and Parkinsonism More Details, mainly in the
lower limbs, where the most common clinical manifestation is tip-toe walking. A
special type of DRD is the Segawa disease (DYT5 dystonia), which is dopa-responsive
generalized dystonia, caused by abnormalities of the gene GCH-1 located on
chromosomes 14q22.1–q22.2.
Keywords: Dopa-responsive dystonia,
sepiapterin reductase, tyrosine hydroxylase
Full text available at:
DOI
10.4103/ijmbs.ijmbs_23_21
Citation
Rissardo JP, Caprara AL. Dopa-responsive
dystonia: guanosine triphosphate cyclohydrolase 1, tyrosine hydroxylase, and
sepiapterin reductase. Ibnosina J Med Biomed Sci 2021;13:44-5
