What question did this study set out to answer?

Determine whether rare loss-of-function variants in ITSN1 represent a high-risk susceptibility factor or a causative Mendelian gene for Parkinson's disease.

October 17, 2025npj Parkinson s DiseaseOpen Access

Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families

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Authors

GCGuillaume CoganCentre National de la Recherche Scientifique CTChristelle TessonCentre National de la Recherche Scientifique LWLisa WelmentCentre National de la Recherche Scientifique

Discussion

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Implication

Genetic analysis reveals typical Parkinson's disease presentations responsive to therapy in ITSN1 variant carriers, indicating its potential role as a causal Mendelian gene.

Key Points

Determine whether rare loss-of-function variants in ITSN1 represent a high-risk susceptibility factor or a causative Mendelian gene for Parkinson's disease.
Screened a large institutional exome sequencing dataset of Parkinson's disease cases to detect rare ITSN1 loss-of-function variants.
Assessed clinical features, treatment responsiveness, and familial inheritance across identified variant carriers.
Identified five carriers harboring ITSN1 loss-of-function variants from three separate families.
Demonstrated that carriers present with typical clinical features of Parkinson's disease and display responsiveness to standard treatments.

Cite This Study

Cogan et al. (2025) studied this question.

synapsesocial.com/papers/6a896325de8e7079c6f7c9fe https://doi.org/10.1038/s41531-025-01141-6

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Implication

Genetic analysis reveals typical Parkinson's disease presentations responsive to therapy in ITSN1 variant carriers, indicating its potential role as a causal Mendelian gene.

Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families

Discussion

Member takes

Implication

Key Points

Cite This Study

Should ITSN1 be considered as a Mendelian Parkinson’s disease gene? Description of three novel families

Discussion

Member takes

Implication

Key Points

Cite This Study

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