Charcot-Marie-Tooth disease from first description to genetic localization of mutations

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy first described in 1886. Our increasing knowledge of this disease correlates well with the development of methods used in neurology over the past 100 years. Although its physiopathology and treatment is still not fully understood, current developments in techniques are opening the way to future discoveries. We have divided its history into three theoretical periods: the first from 1886 to 1956, which was devoted to clinical and pathological study of the disease; the second from 1956 to 1982, which saw the development of electromyography in the investigation of neuromuscular diseases; and the last and current period based upon genetic research, using the methods of molecular biology.     

Reassessment of the Lower Paleolithic (Acheulean) presence in the western Tien Shan

Kulbulak (Uzbekistan) is among the most important Paleolithic sites in Central Asia. Based on excavations from the 1960s to the 1980s, a stratigraphic sequence yielding 46 archeological horizons of the Lower, Middle and Upper Paleolithic has been described. The lowermost 22 layers were at that time defined as Acheulean, both in cultural and chronological aspects. Based on these previous works, Kulbulak has thus often been cited as one of the rarest occurrences of Lower Paleolithic and Acheulean in the region. However, this attribution was debatable. New excavations at Kulbulak in 2007–2010 provided new material and the first reliable dates that permitted us to tackle this issue. Moreover, a reappraisal of the lithic collections and documents from previous excavations was also conducted. These new data clearly indicate the absence of Acheulean or even Lower Paleolithic at Kulbulak. On the contrary, the lithic assemblages from this site only correspond to Middle and Upper Paleolithic periods. The lowermost layers are particularly interesting due to the presence of an early industry with blade and bladelet technology.     

IRSL and post-IR IRSL residual doses recorded in modern dust samples from the Chinese Loess Plateau

Using a set of modern/young (0 to about 200 years old) dust samples collected from the Chinese Loess Plateau the bleachability of IRSL measured at 50°C (IR₅₀) and post-IR₅₀ elevated temperature IRSL (measured at 225°C and at 290°C) is investigated by measuring the apparent (residual) doses recorded by these signals. Doses recorded by quartz OSL are used as a reference. Allowing for differences in dose rates it seems that both IRSL and post-IR IRSL signals yield residual doses that are significantly larger than the doses measured in quartz. These residual doses can be largely explained by thermal transfer caused by preheating. Nevertheless, we advise against the use of a low temperature preheat (<200°C) with IR₅₀ to date loess samples because, as has been reported before, the signal appears to be thermally unstable. In general, we conclude that it may not be advisable to apply post-IR IRSL dating to Chinese loess samples where residuals of up to ∼20 Gy are a significant fraction of the total dose. However, these residuals quickly become unimportant when dating older samples, and this is the age range in which post-IR IRSL dating is likely to be most useful.     

A high resolution optical dating study of the Mostiştea loess-palaeosol sequence (SE Romania) using sand-sized quartz

We report on SAR-OSL dating of closely-spaced samples from the loess-palaeosol sequence near Mostiştea lake (Danube Plain, SE Romania). We used sand-sized quartz and a SAR protocol that involved a preheat of 10s at 220°C and a test dose cutheat to 180°C. It is shown that these thermal pretreatments isolate a quartz OSL signal that is dominated by the fast component. The behaviour of this signal in the SAR protocol is then documented. The ratio of the measured to given dose tends to lie slightly but systematically above unity (∼5% on average) and the recycling ratio below unity (∼6% on average); for all samples, the recuperated signal is negligible. Within analytical uncertainty, the nineteen optical ages are internally consistent and agree with the predictions from a palaeomagnetic age-depth model. Although it may be possible to optimize the SAR measurement procedure, the optical ages already confirm the chronostratigraphic position of the uppermost welldeveloped palaeosol in that it formed during MIS 5. The established chronology allows correlating the sequence near Mostiştea lake with that near Mircea VodĂ that we investigated earlier.     

OSL dating as an alternative tool for age determination of relic charcoal kilns

Chronometric studies of charcoal production remains are largely based on ¹⁴C-dating of associated charcoal. Owing to intrinsic limitations, however, this method provides no meaningful time resolution for post-1650 CE features. We investigate the potential of optically stimulated luminescence (OSL) dating of heated sandy sediments as an alternative and complementary tool for dating charcoal kiln remains. Seven samples from five relic charcoal kilns and 11 complementary samples from the underlying sandy substrate are used. Through a range of procedural tests, we demonstrate that the single-aliquot, regenerative-dose procedure in combination with OSL signals from quartz allows determining equivalent doses both accurately and precisely. For four of the five investigated kilns, OSL ages are consistent with independent age information from ¹⁴C-dating and written sources. Especially for post-1650 CE features, the precision can be significantly better than that of ¹⁴C-dating, and we highlight the potential of OSL dating for distinguishing, relatively, between charcoal production phases with an unprecedented time resolution. We conclude that the approach is a promising alternative to ¹⁴C.