A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.
BACKGROUND
Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign.


METHODS
We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism. Physical examiniations revealed hyperactive reflexes, bilateral ankle clonus and positive Babinski sign in the right. DTI showed reduced white matter integrity of the corticospinal tract in the frontal lobe and subpontine plane. Genetic testing revealed a missense mutation of the ATP1A3-gene (E277K) in the patient.


CONCLUSIONS
We suggest that pyramidal tract impairment could be involved in rapid-onset dystonia-parkinsonism and the pyramidal tract impairment in RDP needs to be differentiated from HSP.
Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China.
Yanqiu
Y
Liu
Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China.
Yan
Y
Lu
Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China. xinqingzhang@outlook.com.
Xinqing
http://orcid.org/0000-0003-1441-2754
X
Zhang
Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China.
Shuping
S
Xie
Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, 100053, China.
Tingting
T
Wang
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Tianwen
T
Wu
Department of Magnetic Resonance, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Chaoyan
C
Wang
D020821:Dystonic Disorders / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D020125:Mutation, Missense; D011712:Pyramidal Tracts / Q000000981:diagnostic imaging / Q000503:physiopathology*; D001405:Reflex, Babinski; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics; D055815:Young Adult
C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
E277K mutation; Na+/K+ −ATPase α3 subunit gene (ATP1A3); Pyramidal tract impairment; Rapid-onset dystonia-parkinsonism (RDP)