PARK2 Patient Presenting with Dopa-Responsive Dystonia

We report a 34-year-old female PARK2 patient presenting with dopa-responsive dystonia (DRD). She noticed difficulty in raising her foot while walking at the age of 24. Her lower limb symptoms were identified as dystonia later, and she was started on Menesit, which resulted in improvement of her symp...

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Autores principales:	Fumihito Yoshii, Koji Aono, Ryuya Kumazawa, Wakoh Takahashi
Formato:	article
Lenguaje:	EN
Publicado:	Karger Publishers 2021
Materias:	park2 dopa-responsive dystonia 123i fp-cit spect Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/0f373d36f5974c2f9978861b6a2bc8cd
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spelling	oai:doaj.org-article:0f373d36f5974c2f9978861b6a2bc8cd2021-12-02T12:40:22ZPARK2 Patient Presenting with Dopa-Responsive Dystonia1662-680X10.1159/000520436https://doaj.org/article/0f373d36f5974c2f9978861b6a2bc8cd2021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/520436https://doaj.org/toc/1662-680XWe report a 34-year-old female PARK2 patient presenting with dopa-responsive dystonia (DRD). She noticed difficulty in raising her foot while walking at the age of 24. Her lower limb symptoms were identified as dystonia later, and she was started on Menesit, which resulted in improvement of her symptoms. She was diagnosed as DRD and has been on continuous treatment since then. The specific binding ratio (SBR) of 123I FP-CIT SPECT was significantly lower than those of controls of the same age, but 123I-meta-iodobenzylguanidine myocardial scintigraphy showed a normal heart to mediastinum ratio. The Montreal Cognitive Assessment, Japanese version, was normal for her age. DRD is an inherited dystonia that typically begins during childhood and may be caused by mutations of the GCH1 (GTP cyclohydrolase), SPR (sepiapterin reductase), or TH (tyrosine hydroxylase) genes. Our patient was diagnosed as PARK2, known as autosomal-recessive juvenile Parkinson’s disease, based on genetic analysis. Although there was no family history of the disease, the decrease in SBR of 123I FP-CIT SPECT enabled us to diagnose PARK2 and to differentiate this from DRD due to other genetic disorders.Fumihito YoshiiKoji AonoRyuya KumazawaWakoh TakahashiKarger Publishersarticlepark2dopa-responsive dystonia123i fp-cit spectNeurology. Diseases of the nervous systemRC346-429ENCase Reports in Neurology, Vol 13, Iss 3, Pp 749-754 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	park2 dopa-responsive dystonia 123i fp-cit spect Neurology. Diseases of the nervous system RC346-429
spellingShingle	park2 dopa-responsive dystonia 123i fp-cit spect Neurology. Diseases of the nervous system RC346-429 Fumihito Yoshii Koji Aono Ryuya Kumazawa Wakoh Takahashi PARK2 Patient Presenting with Dopa-Responsive Dystonia
description	We report a 34-year-old female PARK2 patient presenting with dopa-responsive dystonia (DRD). She noticed difficulty in raising her foot while walking at the age of 24. Her lower limb symptoms were identified as dystonia later, and she was started on Menesit, which resulted in improvement of her symptoms. She was diagnosed as DRD and has been on continuous treatment since then. The specific binding ratio (SBR) of 123I FP-CIT SPECT was significantly lower than those of controls of the same age, but 123I-meta-iodobenzylguanidine myocardial scintigraphy showed a normal heart to mediastinum ratio. The Montreal Cognitive Assessment, Japanese version, was normal for her age. DRD is an inherited dystonia that typically begins during childhood and may be caused by mutations of the GCH1 (GTP cyclohydrolase), SPR (sepiapterin reductase), or TH (tyrosine hydroxylase) genes. Our patient was diagnosed as PARK2, known as autosomal-recessive juvenile Parkinson’s disease, based on genetic analysis. Although there was no family history of the disease, the decrease in SBR of 123I FP-CIT SPECT enabled us to diagnose PARK2 and to differentiate this from DRD due to other genetic disorders.
format	article
author	Fumihito Yoshii Koji Aono Ryuya Kumazawa Wakoh Takahashi
author_facet	Fumihito Yoshii Koji Aono Ryuya Kumazawa Wakoh Takahashi
author_sort	Fumihito Yoshii
title	PARK2 Patient Presenting with Dopa-Responsive Dystonia
title_short	PARK2 Patient Presenting with Dopa-Responsive Dystonia
title_full	PARK2 Patient Presenting with Dopa-Responsive Dystonia
title_fullStr	PARK2 Patient Presenting with Dopa-Responsive Dystonia
title_full_unstemmed	PARK2 Patient Presenting with Dopa-Responsive Dystonia
title_sort	park2 patient presenting with dopa-responsive dystonia
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/0f373d36f5974c2f9978861b6a2bc8cd
work_keys_str_mv	AT fumihitoyoshii park2patientpresentingwithdoparesponsivedystonia AT kojiaono park2patientpresentingwithdoparesponsivedystonia AT ryuyakumazawa park2patientpresentingwithdoparesponsivedystonia AT wakohtakahashi park2patientpresentingwithdoparesponsivedystonia
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PARK2 Patient Presenting with Dopa-Responsive Dystonia

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