Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Guella, Ilaria; Sherman, Holly E.; Appel‐Cresswell, Silke; Rajput, Alex; Rajput, Ali H.; Farrer, Matthew J.

doi:10.1093/brain/awu341

Cited by 24 publications

(24 citation statements)

References 16 publications

(18 reference statements)

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“…My phenotype differs from the three proposed in the recent literature [2][3][4][5][6] , which roughly correspond to those proposed by Wijemanne and Jankovic 1 : a classic nondegenerative, benign form of dystonia that responds to low, sustained doses of levodopa; a degenerative form (late-onset and without dystonia) with levodopa-induced dyskinesia, parkinsonism and abnormal dopaminergic imaging; and an intermediate form. I believe that the adoption of the term 'atypical' , as suggested by Wijemanne and Jankovic, would be valuable in clinical practice.…”

supporting

confidence: 62%

Classification of dopa-responsive dystonia — a patient's perspective

Mottet

2016

Nat Rev Neurol

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supporting

confidence: 62%

Classification of dopa-responsive dystonia — a patient's perspective

Mottet

2016

Nat Rev Neurol

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“… Guella et al (2014) report the screening of GCH1 in 528 Canadian cases with Parkinson’s disease and atypical parkinsonism and 290 matched controls. They identified two variants, the known pathogenic p.K224R (×2) and the novel variant p.A99D (likely pathogenic according to in silico prediction tools and interspecies conservation) in three unrelated cases with Parkinsons’s disease and the two benign variants p.P23L and p.P69L in one single control individual.…”

mentioning

confidence: 99%

“…To date, the only available brain pathology analysis of a GCH1 -associated neurodegenerative parkinsonism case showed severe nigral neurodegeneration and Lewy bodies in surviving nigral cells and in the locus coeruleus ( Gibb et al , 1991 ; Segawa et al , 2004 ). Further studies are needed to establish if the tauopathy described by Guella et al (2014) in their case represents simply an incidental finding.…”

mentioning

confidence: 99%

Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Mencacci

Pittman²,

Isaias

et al. 2014

Brain

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“…In VPS35, a single missense variant, D620N, has been described to segregate with PD in different populations [ 28 ]. Although the GCH1 gene is mainly related to dopa-responsive dystonia, some missense variants in GCH1 have been also related to familial PD cases with an early onset of between 40 and 45 years [ 29 ]. Moreover, ATXN2 is not only involved in PD development.…”

Section: Genetics Of Lewy Body Disordersmentioning

confidence: 99%

Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy

Urbizu

Beyer

2020

IJMS

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Lewy body disorders (LBD) include Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). They are synucleinopathies with a heterogeneous clinical manifestation. As a cause of neuropathological overlap with other neurodegenerative diseases, the establishment of a correct clinical diagnosis is still challenging, and clinical management may be difficult. The combination of genetic variation and epigenetic changes comprising gene expression-modulating DNA methylation and histone alterations modifies the phenotype, disease course, and susceptibility to disease. In this review, we summarize the results achieved in the deciphering of the LBD epigenome. To provide an appropriate context, first LBD genetics is briefly outlined. Afterwards, a detailed review of epigenetic modifications identified for LBD in human cells, postmortem, and peripheral tissues is provided. We also focus on the difficulty of identifying epigenome-related biomarker candidates and discuss the results obtained so far. Additionally, epigenetic changes as therapeutic targets, as well as different epigenome-based treatments, are revised. The number of studies focusing on PD is relatively limited and practically inexistent for DLB. There is a lack of replication studies, and some results are even contradictory, probably due to differences in sample collection and analytical techniques. In summary, we show the current achievements and directions for future research.

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Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Cited by 24 publications

References 16 publications

Classification of dopa-responsive dystonia — a patient's perspective

Classification of dopa-responsive dystonia — a patient's perspective

Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy

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