Literature DB >> 34569973

A Practical Approach to Early-Onset Parkinsonism.

Giulietta M Riboldi1, Emanuele Frattini2,3, Edoardo Monfrini2,3, Steven J Frucht1, Alessio Di Fonzo2.   

Abstract

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that are important to differentiate. Although rarer than classical late-onset Parkinson's disease (PD) and not infrequently overlapping with forms of juvenile onset PD, a correct diagnosis of the specific cause of EO parkinsonism is critical for offering appropriate counseling to patients, for family and work planning, and to select the most appropriate symptomatic or etiopathogenic treatments. Clinical features, radiological and laboratory findings are crucial for guiding the differential diagnosis. Here we summarize the most important conditions associated with primary and secondary EO parkinsonism. We also proposed a practical approach based on the current literature and expert opinion to help movement disorders specialists and neurologists navigate this complex and challenging landscape.

Entities:  

Keywords:  Parkinsonian disorders; Parkinson’s disease; adult-onset dystonia-parkinsonism; autosomal recessive early-onset; dopa-responsive dystonia; genetic counseling; secondary Parkinson’s disease

Mesh:

Year:  2022        PMID: 34569973      PMCID: PMC8842790          DOI: 10.3233/JPD-212815

Source DB:  PubMed          Journal:  J Parkinsons Dis        ISSN: 1877-7171            Impact factor:   5.568


  227 in total

1.  Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Authors:  Ellen Sidransky; Ted Samaddar; Nahid Tayebi
Journal:  Neurology       Date:  2009-10-27       Impact factor: 9.910

2.  Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Authors:  Marialuisa Quadri; Mingyan Fang; Marina Picillo; Simone Olgiati; Guido J Breedveld; Josja Graafland; Bin Wu; Fengping Xu; Roberto Erro; Marianna Amboni; Sabina Pappatà; Mario Quarantelli; Grazia Annesi; Aldo Quattrone; Hsin F Chien; Egberto R Barbosa; Ben A Oostra; Paolo Barone; Jun Wang; Vincenzo Bonifati
Journal:  Hum Mutat       Date:  2013-08-06       Impact factor: 4.878

Review 3.  Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

Authors:  Deborah A Hall; Elizabeth Berry-Kravis
Journal:  Handb Clin Neurol       Date:  2018

4.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

5.  Rapid-onset dystonia-parkinsonism.

Authors:  W B Dobyns; L J Ozelius; P L Kramer; A Brashear; M R Farlow; T R Perry; L E Walsh; E J Kasarskis; I J Butler; X O Breakefield
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910

Review 6.  Manganese Toxicity Upon Overexposure: a Decade in Review.

Authors:  Stefanie L O'Neal; Wei Zheng
Journal:  Curr Environ Health Rep       Date:  2015-09

Review 7.  FBXO7 mutations in Parkinson's disease and multiple system atrophy.

Authors:  Silvio Conedera; Hulya Apaydin; Yuanzhe Li; Hiroyo Yoshino; Aya Ikeda; Takashi Matsushima; Manabu Funayama; Kenya Nishioka; Nobutaka Hattori
Journal:  Neurobiol Aging       Date:  2016-01-14       Impact factor: 4.673

Review 8.  Genetics of Parkinson's disease.

Authors:  Ajith Cherian; K P Divya
Journal:  Acta Neurol Belg       Date:  2020-08-19       Impact factor: 2.396

9.  VPS35 mutations in Parkinson disease.

Authors:  Carles Vilariño-Güell; Christian Wider; Owen A Ross; Justus C Dachsel; Jennifer M Kachergus; Sarah J Lincoln; Alexandra I Soto-Ortolaza; Stephanie A Cobb; Greggory J Wilhoite; Justin A Bacon; Bahareh Behrouz; Heather L Melrose; Emna Hentati; Andreas Puschmann; Daniel M Evans; Elizabeth Conibear; Wyeth W Wasserman; Jan O Aasly; Pierre R Burkhard; Ruth Djaldetti; Joseph Ghika; Faycal Hentati; Anna Krygowska-Wajs; Tim Lynch; Eldad Melamed; Alex Rajput; Ali H Rajput; Alessandra Solida; Ruey-Meei Wu; Ryan J Uitti; Zbigniew K Wszolek; François Vingerhoets; Matthew J Farrer
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

10.  Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Authors:  Suzanne Lesage; Valérie Drouet; Elisa Majounie; Vincent Deramecourt; Maxime Jacoupy; Aude Nicolas; Florence Cormier-Dequaire; Sidi Mohamed Hassoun; Claire Pujol; Sorana Ciura; Zoi Erpapazoglou; Tatiana Usenko; Claude-Alain Maurage; Mourad Sahbatou; Stefan Liebau; Jinhui Ding; Basar Bilgic; Murat Emre; Nihan Erginel-Unaltuna; Gamze Guven; François Tison; Christine Tranchant; Marie Vidailhet; Jean-Christophe Corvol; Paul Krack; Anne-Louise Leutenegger; Michael A Nalls; Dena G Hernandez; Peter Heutink; J Raphael Gibbs; John Hardy; Nicholas W Wood; Thomas Gasser; Alexandra Durr; Jean-François Deleuze; Meriem Tazir; Alain Destée; Ebba Lohmann; Edor Kabashi; Andrew Singleton; Olga Corti; Alexis Brice
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

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  3 in total

Review 1.  Age Cutoff for Early-Onset Parkinson's Disease: Recommendations from the International Parkinson and Movement Disorder Society Task Force on Early Onset Parkinson's Disease.

Authors:  Raja Mehanna; Katarzyna Smilowska; Jori Fleisher; Bart Post; Taku Hatano; Maria Elisa Pimentel Piemonte; Kishore Raj Kumar; Victor McConvey; Baorong Zhang; Eng-King Tan; Rodolfo Savica
Journal:  Mov Disord Clin Pract       Date:  2022-09-10

Review 2.  Immune Response Modifications in the Genetic Forms of Parkinson's Disease: What Do We Know?

Authors:  Luca Magistrelli; Elena Contaldi; Francesca Vignaroli; Silvia Gallo; Federico Colombatto; Roberto Cantello; Cristoforo Comi
Journal:  Int J Mol Sci       Date:  2022-03-23       Impact factor: 5.923

3.  Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Authors:  Veria Vacchiano; Anna Bartoletti-Stella; Giovanni Rizzo; Patrizia Avoni; Piero Parchi; Fabrizio Salvi; Rocco Liguori; Sabina Capellari
Journal:  Genes (Basel)       Date:  2022-07-22       Impact factor: 4.141

  3 in total

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