Introduction: A marked response to L-Dopa and L-Dopa-induced dyskinesia (LID) make the diagnosis of Parkinson's disease (PD) highly likely. This paper evaluates response to L-Dopa in Perry syndrome (PS), parkinsonism with distinct molecular and neuropathologic characteristics.
Methods: Six patients with PS with a mean follow-up of 5 years (0.5-12) were assessed by movement disorder specialists and video recorded in states off and on. Additionally, DATSCAN-SPECT was performed in 3 subjects.
Results: Four patients displayed a marked and sustained response to L-Dopa and LID. Additionally, we observed a distinct pattern of off-state predominant craniocervical dystonia responsive to L-Dopa in 4 patients, truncal dystonia in one, and dystonic head tremor in another. DATSCAN-SPECT was abnormal in 3 patients.
Conclusions: Patients with PS may present PD-like parkinsonism with a marked and sustained response to L-Dopa and LID. The characteristic pattern of craniocervical dystonia may be a helpful clue to the diagnosis of PS.
Keywords: Atypical parkinsonism; DCTN1 gene; Neurodegenerative disease; TDP-43.
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