Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy
| العنوان: | Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy |
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| المؤلفون: | Florian P. Thomas, Ivan Litvinenko, Albena Jordanova, Laurence J. Kinsella, Boryana Ishpekova, Ivailo Tournev, Yi Pan, Steven S. Scherer, Francisco de Assis Aquino Gondim, Peter De Jonghe, Chitharanjan V. Rao, Velina Guergueltcheva, Thomas J. Geller |
| المصدر: | Journal of neurology |
| بيانات النشر: | Springer Science and Business Media LLC, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Weakness, Neurology, Neural Conduction, Action Potentials, Sural nerve, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Charcot-Marie-Tooth Disease, medicine, Humans, Peripheral Nerves, Remyelination, Biology, Aged, Neuroradiology, Family Health, Neurologic Examination, Electromyography, business.industry, Age Factors, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Female, Human medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve |
| الوصف: | Dominant intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) was associated with mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, in two large unrelated Bulgarian and US pedigrees and one sporadic case. Here for the first time we describe the clinical, neurophysiological and histopathological features, and phenotypic differences between these two DI-CMTC families. Twenty-one affected individuals from the US family and 27 from the Bulgarian family were evaluated. The mean age of onset in US subjects was 10.7 years in men and 7.3 years in women, while in the Bulgarian participants it was 18.2 years in men and 33.7 years in women. The course was slowly progressive. Extensor digitorum brevis atrophy was uniform. Atrophy and/or weakness of upper and lower limb muscles were found in over 50 % of the subjects. Nerve conduction studies (NCS) were abnormal in all US adults and five of six children and all Bulgarian patients except one asymptomatic 25-year-old man. Median motor NCS were in the range of 29.545.6 m/s in the US family and 24.757.8 m/s in the Bulgarian family. Sural sensory nerve action potentials were absent in 14/21 and 4/12 NCS from adult US and Bulgarian participants, respectively. Analysis of sural nerve biopsies from US patients revealed age-dependent morphological changes of axonal degeneration, absence of onion bulbs, and |
| تدمد: | 1432-1459 0340-5354 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5be51a5cb31cbda5234d0ee58789a1 https://doi.org/10.1007/s00415-015-7989-8 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....4c5be51a5cb31cbda5234d0ee58789a1 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14321459 03405354 |
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