alexa Parkinson's Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques
ISSN: 2168-9431

Single Cell Biology
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Case Report

Parkinson's Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques

Perandones C1*, Farini VL2, Pellene LA3, Sáenz Farret M3, Cuevas SM3, Micheli FE3 and Radrizzani M2
1Scientific and Technological Coordination Unit of the ANLIS Directorate, National Administration of Laboratories and Institutes of Health, Argentina
2Laboratory of Neuro and Molecular Cytogenetic (CONICET), School of Sciences and Technology, CESyMA, National University of San Martin, Buenos Aires, Argentina
3Parkinson’s Disease and Movement Disorders Program, Hospital de Clínicas, University of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina
Corresponding Author : Claudia Perandones
Scientific and Technological Coordination Unit of the ANLIS Directorate
National Administration of Laboratories and Institutes of Health
Dr. Carlos G. Malbran, Argentina
Tel: (54 11) 4303-1807/11
Received: October 31, 2015 Accepted: November 28, 2015 Published: November 31, 2015
Citation: Perandones C, Farini VL, Pellene LA, Sáenz Farret M, Cuevas SM, et al. (2015) Parkinson’s Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques. Single Cell Biol 4:123. doi:10.4172/2168-9431.1000123
Copyright: © 2015 Perandones C, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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We report the case of a male patient from an Ashkenazi Jewish ethnic group with a history of midline defects (congenital heart disease, high-arched palate and bifid uvula). At the age of 46 years, he came to our center complaining of resting tremor, and a neurological examination concluded Parkinson’s disease. As a part of his approach, genetic evaluation was performed. Fluorescence in-situ hybridization (FISH) confirmed a mosaicism of a 22q deletion in 24% of the analyzed blood cells. Also, immunohistochemical studies were performed on samples from the minor salivary glands using a SNCA antibody. Intense SNCA immunoreactive profiles were obtained for cells from the salivary glands of the patient. This is, to our knowledge, the first description of the association of a mosaicism of a 22q11.2 microdeletion syndrome with Parkinson’s disease.
Our findings suggest that, before excluding the involvement of the 22q11.2 deletion in the etiology of earlyonset PD cases, the spectrum of evaluations should be extended to include more sensitive FISH analysis and immunohistochemical studies. The pathogenesis of early-onset PD in patients with 22q11.2 deletion syndrome remains unknown but, if elucidated, it may contribute to understanding the etiology of PD and ultimately to prevention and treatment strategies.


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