Cockayne syndrome: The expanding clinical and mutational spectrum

Laugel, Vincent

doi:10.1016/j.mad.2013.02.006

Cited by 189 publications

(218 citation statements)

References 42 publications

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“…This finding is not unexpected, as inadequate myelination is often observed in early-onset neuronal degenerative disorders. [29][30][31] The recognition of key neuroradiologic features enables an early diagnosis of AGS and consequently prompt genetic counseling. In addition, the progressive nature of AGS is specific of the initial period of disease course; therefore, an early diagnosis can be crucial in case potential therapies will become available to stop or prevent the further progression of the disease in its initial stages.…”

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confidence: 99%

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

et al. 2016

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Objective: To perform an updated characterization of the neuroradiologic features of AicardiGoutières syndrome (AGS). Methods:The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype.Results: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. Conclusions:We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms. Neurology ® 2016;86:28-35 GLOSSARY AGS 5 Aicardi-Goutières syndrome; GRE 5 gradient-echo imaging; SWI 5 susceptibility-weighted imaging.

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confidence: 99%

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

et al. 2016

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“…Возобновление транскрипции на восстановленном участке ДНК требует определенных событий ремоделирования хроматина и введения изменений в гистоновый "код" [19]. Нарушение такого восстановления мо-жет приводить к тяжелым наследственным забо-леваниям [30].…”

Section: переключение гистонового "кода" в процессе репарации днкunclassified

Repair of chromatinized DNA

Герасимова

Pestov

Kulaeva

et al. 2015

Moscow Univ. Biol.Sci. Bull.

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Ежедневно под действием внешних и внутренних факторов в клетке возникают десятки тысяч повреждений ДНК. Восстановление корректной структуры ДНК -репарация -важ-нейший процесс поддержания работоспособности генома. В ядрах эукариотических клеток ДНК упакована в хроматин, в котором должна успешно проходить ее репарация. Историче-ски сложилось представление, что гистоны временно удаляются с репарируемой ДНК. В то же время накапливается все больше сведений в пользу того, что структура хроматина влияет на репарационный ответ, ограничивая его распространение, изменяя активность ферментов ре-парации, участвуя в определении пути ответа и возобновлении функциональности восстанов-ленного участка генома.

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“…CS is a rare autosomal recessive disorder of NER pathway characterized by severe growth failure, progressive neurologic dysfunction, microcephaly, cutaneous photosensitivity, and a characteristic face with deep sunken eyes. CS has a broad phenotypic spectrum including CS type I, CS type II, and CS type III, which are classified based on age of onset, symptom severity, and rate of progression (Laugel 2013). XP/CS complex is known to have a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS (Broughton et al 1995: Lehmann 2001: Fujimoto et al 2005: Kraemer et al 2007: Schäfer et al 2013.…”

Section: Introductionmentioning

confidence: 99%