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Journal of Neurology

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01-07-2020 | Positron Emission Tomography | Original Communication

GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology

Authors: Jung Hwan Shin, Woong-Woo Lee, Jee-Young Lee, Han-Joon Kim, Beomseok Jeon

Published in: Journal of Neurology | Issue 7/2020

Abstract

Background

Recent studies suggest that GTP cyclohydrolase 1 (GCH-1) variant may be a risk factor for nigral degeneration causing PD.

Methods

A 49-year-old Korean woman visited our movement disorder clinic with the initial presentation of Parkinsonism starting at age 47. We monitored the degree of nigral degeneration with serial FP-CIT PET throughout the course of her disease (2, 8 and 11 years from disease onset).

Results

The initial clinical presentation was consistent with intrinsic dopamine deficiency caused by GCH-1 variant. However, her follow-up disease course was consistent with Parkinsonism caused by nigral neurodegeneration. We found a novel GCH-1 variant in the current case. The disease course of the patient was overall benign in motor and non-motor aspects, corresponding to previously reported GCH-1 cases with PD. Serial FP-CIT PET scans showed normal initial FP-CIT binding followed by a continuous decline of the putaminal binding ratio. However, the decreased binding ratio could not sufficiently explain the corresponding clinical duration of the patient. Therefore, dopamine deficiency by GCH-1 genetic variant contributed to Parkinsonism in the current case with subclinical nigral degeneration.

Conclusion

Our case suggests that GCH-1 variant causes Parkinsonism by unmasking the subclinical nigral pathology, not by causing the nigral neurodegeneration.

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Title: GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology
Authors: Jung Hwan Shin
Woong-Woo Lee
Jee-Young Lee
Han-Joon Kim
Beomseok Jeon
Publication date: 01-07-2020
Publisher: Springer Berlin Heidelberg
Keywords: Positron Emission Tomography
Pathology
Parkinson's Disease
Levodopa
Published in: Journal of Neurology / Issue 7/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09788-2

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology

Abstract

Background

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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