A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment - PubMed (original) (raw)

Case Reports

A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment

Yanqiu Liu et al. BMC Neurol. 2016.

Abstract

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.

Case presentation: 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.

Conclusion: 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.

Keywords: E277K mutation; Na+/K+ −ATPase α3 subunit gene (ATP1A3); Pyramidal tract impairment; Rapid-onset dystonia-parkinsonism (RDP).

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Figures

Fig. 1

Fig. 1

The pedgree for this patient. Squares indicate males; circles, females; arrow, proband; filled circle, affected female; circle with oblique line, died female

Fig. 2

Fig. 2

Prominent lower lip concavity in our patient. Our patient presented prominent lower lip concavity, as shown in the picture

Fig. 3

Fig. 3

Diffusion tensor imaging (DTI) of the patient. Diffusion tensor imaging (DTI) showed reduced white matter integrity of the corticospinal tract in the frontal lobe and subpontine plane. The left side of corticospinal tract showed more sparse in the frontal lobe and subpontine plane than the other side (filled triangles in white shown in picture d, e, f). Also, we could find some interruption in left side of corticospinal tract (arrows in yellow in picture a, b, c, e, f). In addition, we could still see some interruption in the right side of corticospinal tract (arrows in yellow in picture c)

Fig. 4

Fig. 4

Next-generation sequencing of the patient and her father. Next-generation sequencing of the patient revealed a heterozygous nucleotide substitution (c.829G > A) in ATP1A3 gene in exon 8 of chromosome 19 (chr19:42489234) (a). Next-generation sequencing of the patient’s father revealed no nucleotide substitution in ATP1A3 gene (b)

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