دورية أكاديمية
A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy
| العنوان: | A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy |
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| المؤلفون: | Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé |
| المصدر: | Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-118 (2022) |
| بيانات النشر: | Amaltea Medical Publishing House, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | polr3a-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, new mutation variant c.3892-5c > t, Medicine, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1843-8148 2069-6094 |
| العلاقة: | https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdfTest; https://doaj.org/toc/1843-8148Test; https://doaj.org/toc/2069-6094Test |
| DOI: | 10.37897/RJN.2022.2.4 |
| الوصول الحر: | https://doaj.org/article/77e8787538a443048631f682d42bd146Test |
| رقم الانضمام: | edsdoj.77e8787538a443048631f682d42bd146 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 18438148 20696094 |
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| DOI: | 10.37897/RJN.2022.2.4 |