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A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea
Movement disorders, 2018-03, Vol.33 (3), p.482-488
Salpietro, Vincenzo
Perez‐Dueñas, Belen
Nakashima, Kosuke
Antonio‐Arce, Victoria
Manole, Andreea
Efthymiou, Stephanie
Vandrovcova, Jana
Bettencourt, Conceicao
Mencacci, Niccolò E.
Klein, Christine
Kelly, Michy P.
Davies, Ceri H.
Kimura, Haruhide
Macaya, Alfons
Houlden, Henry
2018
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Salpietro, Vincenzo
Perez‐Dueñas, Belen
Nakashima, Kosuke
Antonio‐Arce, Victoria
Manole, Andreea
Efthymiou, Stephanie
Vandrovcova, Jana
Bettencourt, Conceicao
Mencacci, Niccolò E.
Klein, Christine
Kelly, Michy P.
Davies, Ceri H.
Kimura, Haruhide
Macaya, Alfons
Houlden, Henry
Titel
A homozygous loss‐of‐function mutation in PDE2A associated to early‐onset hereditary chorea
Ist Teil von
Movement disorders, 2018-03, Vol.33 (3), p.482-488
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2018
Quelle
MEDLINE
Beschreibungen/Notizen
ABSTRACT Background: We investigated a family that presented with an infantile‐onset chorea‐predominant movement disorder, negative for NKX2‐1, ADCY5, and PDE10A mutations. Methods: Phenotypic characterization and trio whole‐exome sequencing was carried out in the family. Results: We identified a homozygous mutation affecting the GAF‐B domain of the 3’,5’‐cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband. PDE2A hydrolyzes cyclic adenosine/guanosine monophosphate and is highly expressed in striatal medium spiny neurons. We functionally characterized the p.Asp480Gly mutation and found that it severely decreases the enzymatic activity of PDE2A. In addition, we showed equivalent expression in human and mouse striatum of PDE2A and its homolog gene, PDE10A. Conclusions: We identified a loss‐of‐function homozygous mutation in PDE2A associated to early‐onset chorea. Our findings possibly strengthen the role of cyclic adenosine monophosphate and cyclic guanosine monophosphate metabolism in striatal medium spiny neurons as a crucial pathophysiological mechanism in hyperkinetic movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.27286
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5873427
Format
–
Schlagworte
3',5'-Cyclic-nucleotide phosphodiesterase
,
Adenosine
,
Animals
,
Brief Report
,
Brief Reports
,
Chorea
,
Chorea - genetics
,
Cyclic AMP
,
Cyclic AMP - metabolism
,
Cyclic GMP
,
Cyclic GMP - metabolism
,
Cyclic Nucleotide Phosphodiesterases, Type 2 - genetics
,
Enzymatic activity
,
Family Health
,
Genetic Testing
,
Guanosine
,
Humans
,
Male
,
Movement disorders
,
Mutation
,
Mutation - genetics
,
Neostriatum
,
PDE2A
,
Phosphodiesterase
,
Phosphoric Diester Hydrolases - genetics
,
Phosphoric Diester Hydrolases - metabolism
,
RNA, Messenger - metabolism
,
Rodents
,
Spiny neurons
,
striatum
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