دورية أكاديمية
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.
| العنوان: | X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review. |
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| المؤلفون: | Guimarães TG; Department of Neurology, Movement Disorders Center, University of São Paulo, São Paulo, Brazil.; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil., Parmera JB; Department of Neurology, Movement Disorders Center, University of São Paulo, São Paulo, Brazil., Castro MAA; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil., Cury RG; Department of Neurology, Movement Disorders Center, University of São Paulo, São Paulo, Brazil., Barbosa ER; Department of Neurology, Movement Disorders Center, University of São Paulo, São Paulo, Brazil., Kok F; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil. |
| المصدر: | Movement disorders clinical practice [Mov Disord Clin Pract] 2024 May; Vol. 11 (5), pp. 556-566. Date of Electronic Publication: 2024 Feb 11. |
| نوع المنشور: | Case Reports; Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Hoboken, NJ : Wiley, [2014]- |
| مواضيع طبية MeSH: | Parkinsonian Disorders*/genetics , Parkinsonian Disorders*/drug therapy , Phosphoglycerate Kinase*/genetics, Adult ; Humans ; Male ; Middle Aged ; Epilepsy/genetics ; Epilepsy/drug therapy ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/drug therapy ; Levodopa/therapeutic use ; Mutation |
| مستخلص: | Background: Genetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials. Cases: We report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.4 (PGK1):c.950G > A;p.(Gly317Asp) was identified in a hemizygous state. Literature Review: Only 8 previous cases have linked this phenotype to PGK1, a gene more commonly associated with hemolytic anemia and myopathy. The unusual association of epilepsy, psychiatric symptoms, action tremor, limb dystonia, cognitive symptoms, and l-dopa-responsive parkinsonism must draw attention to PGK1 mutations, especially because this gene is absent from most commercial hereditary parkinsonism panels. Conclusions: This report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease-modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ-1 genes. (© 2024 International Parkinson and Movement Disorder Society.) |
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| فهرسة مساهمة: | Keywords: PGK1; Parkinson's disease; epilepsy; levodopa‐responsive parkinsonism; phosphoglycerate kinase‐1 |
| المشرفين على المادة: | 46627O600J (Levodopa) EC 2.7.2.3 (PGK1 protein, human) EC 2.7.2.3 (Phosphoglycerate Kinase) |
| تواريخ الأحداث: | Date Created: 20240211 Date Completed: 20240508 Latest Revision: 20240624 |
| رمز التحديث: | 20240625 |
| مُعرف محوري في PubMed: | PMC11078492 |
| DOI: | 10.1002/mdc3.13992 |
| PMID: | 38341651 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2330-1619 |
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| DOI: | 10.1002/mdc3.13992 |