TY - JOUR
T1 - L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome
AU - Dulski, Jarosław
AU - Cerquera-Cleves, Catalina
AU - Milanowski, Lukasz
AU - Kwiatek-Majkusiak, Jolanta
AU - Koziorowski, Dariusz
AU - Ross, Owen A.
AU - Pentela-Nowicka, Jolanta
AU - Sławek, Jarosław
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, Mayo Clinic in Florida Focused Research Team Program, the gifts from The Sol Goldman Charitable Trust, and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Reuter Foundation. He serves as PI or Co-PI on Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301), Neuraly, Inc. (NLY01-PD-1), and Vigil Neuroscience, Inc. (VGL101-01.001) grants.
Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2022/7
Y1 - 2022/7
N2 - 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.
AB - 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.
KW - Atypical parkinsonism
KW - DCTN1 gene
KW - Neurodegenerative disease
KW - TDP-43
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U2 - 10.1016/j.parkreldis.2022.05.023
DO - 10.1016/j.parkreldis.2022.05.023
M3 - Article
C2 - 35691177
AN - SCOPUS:85131661472
SN - 1353-8020
VL - 100
SP - 19
EP - 23
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -