A new F‐box protein 7 gene mutation causing typical Parkinson's disease

Lohmann, Ebba; Coquel, Anne-Sophie; Honoré, Aurélie; Gürvıt, Hakan; Hanağası, Haşmet; Emre, Murat; Leutenegger, Anne-Louise; Drouet, Valérie; Sahbatou, Mourad; Güven, Gamze; Erginel-Unaltuna, Nihan; Deleuze, Jean‐François; Lesage, Suzanne; Brice, Alexis

doi:10.1002/mds.26266

Cited by 56 publications

(69 citation statements)

References 21 publications

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“…160 Interestingly, just like the other autosomal recessive forms of PD, it was suggested that FBXO7 is involved in mitophagy. 161 Given its similar phenotype to PARK2-associated PD, the interaction of FBXO7 with PARK2 was examined, and it was shown that reduced expression of FBXO7 leads to reduced translocation of PARK2 to the mitochondria.…”

Section: Fbxo7 and Mitophagymentioning

confidence: 99%

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

2015

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Section: Fbxo7 and Mitophagymentioning

confidence: 99%

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

2015

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“…; Lohmann et al . ), These aforementioned side effects occurred in patients with l ‐Dopa‐responsive, idiopathic PD and also in a patient that presented with a pre‐synaptic dopaminergic deficit.…”

Section: Park15 Syndromementioning

confidence: 87%

“…; Lohmann et al . ). But also patients with typical age‐at‐onset and typical clinical symptoms of PD have been identified (Lohmann et al .…”

Section: Park15 Syndromementioning

confidence: 97%

“…But also a family with onset in the 40s and 50s has been reported (Lohmann et al . ). As to why the age‐of‐onset is so different in these patients is unknown.…”

Section: Park15 Syndromementioning

confidence: 97%

“…; Lohmann et al . ). The pathological DaTSCAN‐SPECT and normal IBZM‐SPECT confirmed the diagnosis of a pre‐synaptic dopaminergic deficit (Di Fonzo et al .…”

Section: Park15 Syndromementioning

confidence: 97%

See 2 more Smart Citations

Mechanistic contributions of FBXO7 to Parkinson disease

Joseph

Schulz

Stegmüller

2017

Journal of Neurochemistry

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Parkinson disease (PD) is, without doubt, a burden on modern society as the prevalence increases significantly with age. Owing to this growing number of PD cases, it is more critical than ever to understand the pathogenic mechanisms underlying PD to identify therapeutic targets. The discovery of genetic mutations associated with PD and parkinsonism paves the way toward this goal. Even though, familial forms of the disease represent the minority of PD cases and some forms are so rare that there are only a few affected families, the research on the associated genes is invaluable. Recent additions to PARK mutations are those in PARK15 that encodes the F-box protein O-type 7 (FBXO7). In this review, we highlight the recent research on FBXO7, which advances our knowledge of the etiopathological pathways and fills unexpected gaps therein, justifying the dedicated study of rare variants of PD.

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Molecular Genetics of Parkinsonism

Lesage

Brice

2018

Encyclopedia of Life Sciences

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Over the past decade, genetic causes of parkinsonism have been elucidated, but they account in most populations, for less than 10% of the cases. Since the discovery of the first gene responsible for Parkinson disease (PD), SCNA encoding α‐synuclein, linkage mapping and positional cloning have identified autosomal dominantly or recessively inherited PD‐causing mutations in the genes encoding parkin , PINK1 , DJ‐1 , LRRK2 and ATP13A2 , indicating that PD has a highly heterogeneous aetiology. With the introduction of next‐generation sequencing, rare mutations in DNAJC6 , SYNJ1 , VPS13C , VPS35 , DNAJC13 , TMEM230 and CHCHD2 were then discovered to cause inherited parkinsonism. In addition, genetic studies from candidate genes, to unbiased genome‐wide approaches including association and next‐generation sequencing have nominated a number of disease determinants. In this article, we will highlight the current progress and future prospects in the field of PD genetics, since 2010. Key Concepts The introduction of next‐generation sequencing technologies associated with exome/genome sequencing has accelerated the discovery of novel causative genes and susceptibility factors in numerous Mendelian disorders. Integrative approaches combining DNA sequencing with gene expression and methylome data will support and accelerate the identification and functional characterisation of the biological variants and disease genes. Deep and accurate patient phenotyping is of major importance for the success of gene identification in heterogeneous diseases. The use of larger and more homogeneous cohorts (endophenotype) will increase the chances of identifying high/intermediate risk variants in whole exome/whole genome sequencing. Identification of additional PD and parkinsonism‐associated genes will enable further elucidation of the disease mechanisms and the development of disease‐modifying therapeutic strategies. Meta‐analysis of many genome‐wide association studies improves the power to detect more associations and to investigate the consistency or heterogeneity of these associations across diverse datasets and study populations.

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A new F‐box protein 7 gene mutation causing typical Parkinson's disease

Abstract: This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety.

Cited by 56 publications

References 21 publications

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Mechanistic contributions of FBXO7 to Parkinson disease

Molecular Genetics of Parkinsonism

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