Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation

Potulska‐Chromik, Anna; Hoffman-Zacharska, Dorota; Łukawska, Małgorzata; Kostera‐Pruszczyk, Anna

doi:10.1016/j.pjnns.2016.07.013

Cited by 13 publications

(10 citation statements)

References 30 publications

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“…Parkinson disease associated with mutations in parkin [26]. Dystonia is a well-known feature of this genetic subtype of Parkinson disease, although the dystonia is mostly in the limbs [27][28][29]. Docosahexaenoic acid was also potentially abnormal in CD.…”

Section: Discussionmentioning

confidence: 99%

A Metabolomic Study of Cervical Dystonia

Liu

Scorr

Kilic‐Berkmen

et al. 2020

Preprint

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BackgroundCervical dystonia is the most common of the adult-onset focal dystonias. Most cases are idiopathic. The current view is that cervical dystonia may be caused by some combination of genetic and environmental factors. Genetic contributions have been studied extensively, but there are few studies of other factors.ObjectiveTo conduct an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways.MethodsPlasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics.ResultsA total of 7,346 metabolic features remained after quality control, and 289 demonstrated significant differences between cases and controls, depending on statistical criteria chosen. Pathway analysis revealed 9 biological processes to be significantly associated at p<0.05, 5 pathways were related to carbohydrate metabolism, 3 pathways were related to lipid metabolism.ConclusionThis is the first large scale metabolomics study for any type of dystonia. The results may provide potential novel insights into the biology of cervical dystonia.

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Section: Discussionmentioning

confidence: 99%

A Metabolomic Study of Cervical Dystonia

Liu

Scorr

Kilic‐Berkmen

et al. 2020

Preprint

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“…The other reason why we chose risperidone was because it has been shown to be effective at treating psychosis in patients with Parkinson's Disease [ 12 ]. Since recent literature has suggested that dopa-responsive dystonia may be associated with Parkinson's Disease [ 13 , 14 ], we postulated that risperidone would also be effective at treating psychosis in dopa-responsive dystonia.…”

Section: Discussionmentioning

confidence: 99%

Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia

Wang

Sison

2018

Case Reports in Psychiatry

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Dopa-responsive dystonia is a rare childhood neurological disorder characterized by asymmetric dystonia, predominantly of the lower limb, that responds excellently to levodopa replacement therapy. Although it is known that behavioral changes, such as depression, anxiety disorders, and sleep disturbances, typically follow onset of motor symptoms, there is limited literature on the psychiatric symptoms of this disorder. This report describes a novel case of a 20-year-old male with a history of dopa-responsive dystonia and schizoaffective disorder who presented with both dystonia and psychosis after a period of medication noncompliance. This case provides a reference for the management of psychosis in patients with dopa-responsive dystonia and highlights the need for more research on the nonmotor symptoms that accompany this neurological disorder.

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“…Many studies of monogenic PD forms in Polish populations have analysed the three most common autosomal recessive genes reported in EOPD: PRKN, PINK1, and DJ1 [16,20,23,24,31]. Though typical age at onset for PD is above 60 years, EOPD is defined in different ways.…”

Section: Autosomal Recessive Pd Genesmentioning

confidence: 99%

Genetics of Parkinson’s disease in the Polish population

Milanowski

Ross

Friedman

et al. 2021

Neurol Neurochir Pol.

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Introduction. Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication.Methodology. We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish' , 'genetics' , 'mutations' , and 'variants' .Results. In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. Conclusion.Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.

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Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation

Cited by 13 publications

References 30 publications

A Metabolomic Study of Cervical Dystonia

A Metabolomic Study of Cervical Dystonia

Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia

Genetics of Parkinson’s disease in the Polish population

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