Levodopa Responsiveness in Adult-onset Lower Limb Dystonia is Associated with the Development of Parkinson’s Disease

Florence C F Chang,Keith A Josephs

doi:10.5334/tohm.136

Abstract

Background: Adult-onset primary lower limb dystonia (AOPLLD) has been reported as an early sign of Parkinson’s disease (PD) or Parkinson-plus syndrome in case series. No prior systematic analysis has assessed clinical clues predicting later development of PD or Parkinson-plus syndrome. Methods: We identified patients with AOPLLD from medical records. We excluded patients who had not been diagnosed by a neurologist, and who had a preexisting diagnosis of PD, psychogenic, or secondary dystonia. Records were subdivided into those who later developed PD or Parkinson-plus disorders and those who did not. The following clinical characteristics were compared between the two groups: dystonia onset age, type of dystonia, levodopa response, anticholinergic response, and family history of Parkinsonism or tremor. Results: Twenty-two AOPLLD patients were identified: 77% female; the median dystonia onset age was 53 years. Eight (37%) developed Parkinson’s disease; 2 (9%) developed corticobasal syndrome. Twelve patients (54%) did not develop Parkinsonism after a median follow-up period of 1.5 years. There was a significant difference in leg dystonia levodopa response between the two groups (p=0.02). Conclusion: In patients with AOPLLD, leg dystonia with levodopa response is associated with the future development of PD.

Highlights

Childhood-onset lower limb dystonia characterizes primary dystonia such as DYT1 or DYT6, whereas adult-onset primary lower limb dystonia (AOPLLD) can be an initial presentation of Parkinson’s disease (PD),[1] corticobasal syndrome, psychogenic dystonia, or stifflimb syndrome.[2]
Out of 174 patients, 152 were excluded: 37 patients with preexisting PD, 13 patients with lower extremity trauma preceding dystonia, five patients with psychogenic dystonia, 30 patients with secondary dystonia, 10 patients with childhood-onset lower limb dystonia, 49 patients did not have a final diagnosis of dystonia when they saw a neurologist; six patients did not follow-up and two patients were excluded because the follow-up period was less than 0.5 years
The genetic forms of PD, for example, parkin, DJ-1,5 PINK16 gene mutation have been associated with an initial presentation of leg dystonia

Summary

Introduction

Childhood-onset lower limb dystonia characterizes primary dystonia such as DYT1 or DYT6, whereas adult-onset primary lower limb dystonia (AOPLLD) can be an initial presentation of Parkinson’s disease (PD),[1] corticobasal syndrome, psychogenic dystonia, or stifflimb syndrome.[2] AOPLLD that does not progress to a secondary cause is being increasingly recognized.[3,4] There has been no systematic analysis for the clinical indicators towards a later development of PD or Parkinson-plus syndrome. Adult-onset primary lower limb dystonia (AOPLLD) has been reported as an early sign of Parkinson’s disease (PD) or Parkinson-plus syndrome in case series. Results: Twenty-two AOPLLD patients were identified: 77% female; the median dystonia onset age was 53 years. Conclusion: In patients with AOPLLD, leg dystonia with levodopa response is associated with the future development of PD

Methods

Results

Conclusion