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. |
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| 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] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| 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] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-023-06832-7 |
