Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism

[en] ABSTRACT Background: While levodopa may benefit some patients with monogenic Parkinson’s Disease and parkinsonism, others may exhibit aberrant responses earlier after exposure. Reporting treatment responses in rare genetic parkinsonism will help tailor therapeutic approaches to specific patients subpopulations. Case Report: We report the therapeutic response in a patient with RAB39B X-linked parkinsonism, who exhibited motor and non-motor complications within a few months of Levodopa. Discussion: Severe and debilitating Levodopa-induced complications can occur very early in the treatment course of X-linked parkinsonism, highlighting the need for an individualized therapeutic approach and follow-up in rare parkinsonian syndromes.

Research Center/Unit :

GIGA CRC In vivo Imaging - Rare Movement Disorders Research Group - ULiège

Disciplines :

Neurology

Author, co-author :

Mackels, Laurane ; Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie

Aktan, David ; Université de Liège - ULiège > GIGA

Depierreux, Frédérique ; Université de Liège - ULiège > Département des sciences cliniques

Language :

English

Title :

Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism

Alternative titles :

[fr] Complications motrices précoces induites par la Lévodopa dans un Parkinsonisme lié à l'X (variant RAB39)

Publication date :

25 November 2024

Journal title :

Tremor and Other Hyperkinetic Movements

eISSN :

2160-8288

Publisher :

Ubiquity Press, Ltd.

Volume :

Issue :

1 (58)

Pages :

1-6

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 26 November 2024

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37 (6 by ULiège)

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7 (1 by ULiège)

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Bibliography

Rajput A, et al. Levodopa efficacy and pathological basis of Parkinson syndrome. Clinical neuropharmacology. 1990; 13(6): 553–558. DOI: https://doi.org/10.1097/00002826-199012000-00007
Rajput AH, et al. Clinical–pathological study of levodopa complications. Movement disorders: official journal of the Movement Disorder Society. 2002; 17(2): 289–296. DOI: https://doi.org/10.1002/mds.10031
Guadagnolo D, et al. Genotype-phenotype correlations in monogenic Parkinson disease: A review on clinical and molecular findings. Frontiers in Neurology. 2021; 12: 648588DOI: https://doi.org/10.3389/fneur.2021.648588
Schrag A, Schott JM. Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism. The Lancet Neurology. 2006; 5(4): 355–363. DOI: https://doi. org/10.1016/S1474-4422(06)70411-2
Wickremaratchi M, Ben‐Shlomo Y, Morris HR. The effect of onset age on the clinical features of Parkinson’s disease. European journal of neurology. 2009; 16(4): 450–456. DOI: https://doi.org/10.1111/j.1468-1331.2008.02514.x
Mackels L, Moïse M, Depierreux F. Multimodal imaging of a patient with RAB39B mutation. Neuroradiology. 2022; 64(3): 621–625. DOI: https://doi.org/10.1007/s00234-021-02882-w
Riboldi GM, et al. A practical approach to early-onset parkinsonism. Journal of Parkinson’s disease. 2022; 12(1): 1–26. DOI: https://doi.org/10.3233/JPD-212815
Wilson GR, et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. The American Journal of Human Genetics. 2014; 95(6): 729–735. DOI: https://doi. org/10.1016/j.ajhg.2014.10.015
Fahn S. Parkinson disease, the effect of levodopa, and the ELLDOPA trial. Archives of neurology. 1999; 56(5): 529–535. DOI: https://doi.org/10.1001/archneur.56.5.529
Kieburtz K. Therapeutic strategies to prevent motor complications in Parkinson’s disease. Journal of neurology. 2008; 255: 42–45. DOI: https://doi.org/10.1007/s00415-008-4007-4
Cilia R, et al. The modern pre-levodopa era of Parkinson’s disease: insights into motor complications from sub-Saharan Africa. Brain. 2014; 137(10): 2731–2742. DOI: https://doi. org/10.1093/brain/awu195
Camerucci E, et al. Early-Onset Parkinsonism and Early-Onset Parkinson’s Disease: A Population-Based Study (2010–2015). J Parkinsons Dis. 2021; 11(3): p. 1197–1207. DOI: https://doi.org/10.3233/JPD-202464
Turcano P, et al. Levodopa-induced dyskinesia in Parkinson disease: a population-based cohort study. Neurology. 2018; 91(24): e2238–e2243. DOI: https://doi.org/10.1212/WNL.0000000000006643
Mehanna R, et al. Comparing clinical features of young onset, middle onset and late onset Parkinson’s disease. Parkinsonism & related disorders. 2014; 20(5): 530–534. DOI: https://doi.org/10.1016/j.parkreldis.2014.02.013
Kostic V, et al. Early development of levodopa‐induced dyskinesias and response fluctuations in young‐onset Parkinson’s disease. Neurology. 1991; 41(2 Part 1): 202–202. DOI: https://doi.org/10.1212/WNL.41.2_ Part_1.202
Leaver K, et al. Clinical profiles and outcomes of deep brain stimulation in G2019S LRRK2 Parkinson disease. Journal of Neurosurgery. 2022; 137(1): 184–191. DOI: https://doi. org/10.3171/2021.7.JNS21190
Kuusimäki T, et al. Deep brain stimulation for monogenic Parkinson’s disease: a systematic review. Journal of Neurology. 2020; 267: 883–897. DOI: https://doi.org/10.1007/s00415-019-09181-8
Artusi CA, et al. Association of subthalamic deep brain stimulation with motor, functional, and pharmacologic outcomes in patients with monogenic Parkinson disease: a systematic review and meta-analysis. JAMA network open. 2019; 2(2): e187800–e187800. DOI: https://doi.org/10.1001/jamanetworkopen.2018.7800
Laxova R, et al. An X‐linked recessive basal ganglia disorder with mental retardation. American journal of medical genetics. 1985; 21(4): 681–689. DOI: https://doi.org/10.1002/ajmg.1320210409
Gregg RG, et al. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27. 3-qter. Genomics. 1991; 9(4): 701–706. DOI: https://doi.org/10.1016/0888-7543(91)90363-J
Lesage S, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurology Genetics. 2015; 1(1). DOI: https://doi.org/10.1212/NXG.0000000000000009
Mata IF, et al. The RAB39B p. G192R mutation causes X-linked dominant Parkinson’s disease. Molecular neurodegeneration. 2015; 10(1): 1–8. DOI: https://doi. org/10.1186/s13024-015-0045-4
Shi Ch, et al. A novel RAB39B gene mutation in X‐linked juvenile parkinsonism with basal ganglia calcification. Movement Disorders. 2016; 31(12): 1905–1909. DOI: https://doi.org/10.1002/mds.26828
Ciammola A, et al. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. Parkinsonism & Related Disorders. 2017; 44: 142–146. DOI: https://doi.org/10.1016/j. parkreldis.2017.08.021
Güldner M, et al. Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant. Parkinsonism & Related Disorders. 2016; 31: 148–150. DOI: https://doi.org/10.1016/j. parkreldis.2016.07.005