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A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.

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Title: A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.
Authors: Garrì, Federica (AUTHOR), Ciprietti, Dario (AUTHOR), Lerjefors, Lisa (AUTHOR), Landi, Andrea (AUTHOR), Pilleri, Manuela (AUTHOR), Biundo, Roberta (AUTHOR), Salviati, Leonardo (AUTHOR), Carecchio, Miryam (AUTHOR), Antonini, Angelo (AUTHOR)
Source: Neurological Sciences. Sep2023, Vol. 44 Issue 9, p3323-3326. 4p. 1 Color Photograph, 1 Black and White Photograph.
Subjects: Deep brain stimulation, Globus pallidus, Movement disorders, Parkin (Protein), Informed consent (Medical law), Juvenile diseases
Abstract: Overall, we suggest that PARK2 gene mutations should be considered in dystonia-parkinsonism with an onset in the infantile period to childhood and adolescence and with clinical features that in some cases may mimic CP. Recently, an increasing number of genetic conditions presenting with childhood dystonia-parkinsonism have been recognized, mainly caused by mutations in genes encoding for enzymes involved in in the biosynthesis of monoaminergic neurotransmitters, such as GCH1, SPR, or TH or in brain iron accumulation syndromes [[6]]. In our patient, the presence of dystonia and parkinsonism and the positive SPECT led us to perform an extensive genetic panel for movement disorders. [Extracted from the article]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.
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  Data: <searchLink fieldCode="AR" term="%22Garrì%2C+Federica%22">Garrì, Federica</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ciprietti%2C+Dario%22">Ciprietti, Dario</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lerjefors%2C+Lisa%22">Lerjefors, Lisa</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Landi%2C+Andrea%22">Landi, Andrea</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pilleri%2C+Manuela%22">Pilleri, Manuela</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Biundo%2C+Roberta%22">Biundo, Roberta</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salviati%2C+Leonardo%22">Salviati, Leonardo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Carecchio%2C+Miryam%22">Carecchio, Miryam</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Antonini%2C+Angelo%22">Antonini, Angelo</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Sep2023, Vol. 44 Issue 9, p3323-3326. 4p. 1 Color Photograph, 1 Black and White Photograph.
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  Data: <searchLink fieldCode="DE" term="%22Deep+brain+stimulation%22">Deep brain stimulation</searchLink><br /><searchLink fieldCode="DE" term="%22Globus+pallidus%22">Globus pallidus</searchLink><br /><searchLink fieldCode="DE" term="%22Movement+disorders%22">Movement disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Parkin+%28Protein%29%22">Parkin (Protein)</searchLink><br /><searchLink fieldCode="DE" term="%22Informed+consent+%28Medical+law%29%22">Informed consent (Medical law)</searchLink><br /><searchLink fieldCode="DE" term="%22Juvenile+diseases%22">Juvenile diseases</searchLink>
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  Label: Abstract
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  Data: Overall, we suggest that PARK2 gene mutations should be considered in dystonia-parkinsonism with an onset in the infantile period to childhood and adolescence and with clinical features that in some cases may mimic CP. Recently, an increasing number of genetic conditions presenting with childhood dystonia-parkinsonism have been recognized, mainly caused by mutations in genes encoding for enzymes involved in in the biosynthesis of monoaminergic neurotransmitters, such as GCH1, SPR, or TH or in brain iron accumulation syndromes [[6]]. In our patient, the presence of dystonia and parkinsonism and the positive SPECT led us to perform an extensive genetic panel for movement disorders. [Extracted from the article]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              M: 09
              Text: Sep2023
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