Abstract
Background: The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China.Method: Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed retrospectively.Result: From January 2000 to January 2019, 31 patients were diagnosed with DRD. Twenty (64.5%) were male, and 11 (35.5%) were female. Ten patients (32.3%) had classic DRD, 19 (61.3%) had DRD-plus, and 2 (6.4%) patients had mutations in the dopamine synthetic pathway (PTS gene mutation) without a typical phenotype (not DRD or DRD-plus). Twenty-eight (90.3%) patients underwent genetic testing. Homozygous or compound heterozygous TH gene mutations were found in 22 patients. GCH1 and PTS gene mutations were found in 2 patients. Heterozygous TH mutation and genetic testing were negative in 1 patient. They took different doses of L-dopa, ranging from 0.4 to 8.7 mg/kg/d. Patients with classic DRD responded well. In patients with DRD-plus, 94.7% (18/19) responded well with residual symptoms. One patient (5.3%) did not show any improvement.Conclusion: DRD can be divided into classic DRD and DRD-plus. In this cohort, the most common pathogenic gene was TH. Fever was the important inducing factor of the disease. L-dopa has sustained and stable effects on patients with classic DRD. In patients with DRD-plus, treatment with L-dopa could ameliorate most of the symptoms.
Highlights
Dopa-responsive dystonia (DRD) is clinically defined as a kind of hereditary progressive dystonia with marked diurnal fluctuation in tradition
Twenty-two patients, six of whom were diagnosed with classic DRD and 16 with DRD-plus, had homozygous or compound heterozygous mutations in the TH gene
Two patients had PTS gene mutations, and they did not have the clinical features of DRD
Summary
Dopa-responsive dystonia (DRD) is clinically defined as a kind of hereditary progressive dystonia with marked diurnal fluctuation in tradition. With the recognition of the disease, many atypical manifestations have been reported. These issues caused confusion as to what DRD is. Patients with atypical manifestations have been reported. Some patients had psychomotor retardation, convulsion, and parkinsonism, which may be accompanied by vegetative and fluctuating extrapyramidal symptoms [5,6,7]. For this reason, Jeon et al proposed the term “DRD-plus” to cover patients with features. The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China
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