دورية أكاديمية
Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas
| العنوان: | Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas |
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| المؤلفون: | Andreas Thimm, Saskia Bolz, Michael Fleischer, Benjamin Stolte, Sebastian Wurthmann, Andreas Totzeck, Alexander Carpinteiro, Peter Luedike, Maria Papathanasiou, Christoph Rischpler, Ken Herrmann, Tienush Rassaf, Lars Steinmüller-Magin, Christoph Kleinschnitz, Tim Hagenacker |
| المصدر: | Neurological Research and Practice, Vol 1, Iss 1, Pp 1-6 (2019) |
| بيانات النشر: | BMC, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | TTR, Amyloidosis, Cardiomyopathy, Epidemiology, Genotype-phenotype correlation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Abstract Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces life expectancy. As treatment options grow, a proper diagnostic approach is mandatory especially in non-endemic regions with diverse genetic backgrounds. Methods We examined 102 neuropathy patients at a German neuromuscular centre. Common causes of polyneuropathy were ruled out by medical history and extensive laboratory testing to define a cohort of patients with progressive polyneuropathy classified as idiopathic. Molecular genetic testing of the entire TTR gene was performed, and the detected amyloidogenic and non-amyloidogenic variants were associated with the observed clinical phenotypes and results of prior diagnostic testing. Results Two of 102 patients tested positive for amyloidogenic mutations (p.Ile127Val and p.Glu81Lys), while a variant of unknown significance, p.Glu26Ser, was found in 10 cases. In both positive cases, previous negative biopsy results were proved by gene sequencing to be false negative. In case of the p.Glu81Lys mutation we detected clinical presentation (combination of severe polyneuropathy and cardiomyopathy), ethnic background (patient of polish origin, mutation only reported in Japanese families before), and disease course clearly differed from well-known cases of the same mutation in the literature. Conclusions In conclusion, transthyretin hereditary amyloid polyneuropathy (ATTR-PN) should be considered in cases of otherwise idiopathic polyneuropathy. Sequencing of the four exons of the TTR gene should be considered the key step in diagnosis, while tissue biopsy possibly leads to false negative results. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2524-3489 |
| العلاقة: | http://link.springer.com/article/10.1186/s42466-019-0035-zTest; https://doaj.org/toc/2524-3489Test |
| DOI: | 10.1186/s42466-019-0035-z |
| الوصول الحر: | https://doaj.org/article/7b621dec2d04406585236bfbf64082b7Test |
| رقم الانضمام: | edsdoj.7b621dec2d04406585236bfbf64082b7 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 25243489 |
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| DOI: | 10.1186/s42466-019-0035-z |