E-resources
-
Feng, Bangzhe; Sun, Guangfei; Kong, Qingxia; Li, Qiubo
Medicine (Baltimore), 11/2018, Volume: 97, Issue: 44Journal Article
Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein. A 16-month-old Chinese boy presented with symptoms of movement disorder and growth retardation in his infant period. The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD. The patient was administrated low-dose levodopa. The treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years. Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance for the subsequent treatment.
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.