Academic Journal
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
| العنوان: | 6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study |
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| المؤلفون: | Hanihara, T., Inoue, K., Kawanishi, C., Sugiyama, N., Miyakawa, T., Onishi, H., Yamada, Y., Osaka, H., Kosaka, K., Iwabuchi, K., Owada, M. |
| المصدر: | Movement Disorders ; volume 12, issue 3, page 408-411 ; ISSN 0885-3185 1531-8257 |
| بيانات النشر: | Wiley |
| سنة النشر: | 1997 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/mds.870120321 |
| الاتاحة: | http://dx.doi.org/10.1002/mds.870120321 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.870120321 https://onlinelibrary.wiley.com/doi/full/10.1002/mds.870120321 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.D9D201F1 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/mds.870120321 |
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