The auscultatory technique remains the point of reference for the validation of non-invasive blood pressure measurement devices, although the exact origin of the Korotkoff sounds is still debated and comparison with intra-arterial measurement shows limits and pitfalls. Automatic oscillometric devices are now widely used by nurses, physicians, and patients. However, many available devices have not been duly validated. Moreover, they calculate systolic and diastolic blood pressures using undisclosed algorithms. Therefore, these devices are not interchangeable, and their reliability may be questionable in some clinical situations. Nevertheless, oscillometry is increasingly used, beside NIBP, for the assessment of central blood pressure and systemic arterial wall stiffness. Awareness of its limits and causes of error is all the more necessary.

Fragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1 premutation. The features include ataxia, action tremor and middle cerebellar peduncle (MCP) hyperintensity, the latter being the only major radiological criterion in the diagnosis of definite FXTAS until very recently. The importance of corpus callosum splenium (CCS) hyperintensity was recently reported and this sign is now considered as an additional major radiological diagnostic criterion in the diagnosis of FXTAS. However, little is known about its relevance for the diagnosis of FXTAS in clinical practice. We report a practical justification of the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the diagnosis of FXTAS. Clinical and radiological study of 22 FMR1 premutation carriers with neurological signs that may be encountered in FXTAS compared to series of patients with essential tremor, multiple system atrophy of cerebellar type, Parkinson's disease, Alzheimer's disease and stroke. Among the 22 patients with FMR1 premutation [17 men, 5 women; mean age, 63 ± 7.5 (46-84)], 14 were diagnosed with definite FXTAS with the initial criteria. Considering CCS hyperintensity as a new major radiological criterion permitted the diagnosis of definite FXTAS in 3 additional patients. Overall CCS proved as frequent as MCP hyperintensity (64 versus 64 %), while 23 % of patients had CCS but not MCP hyperintensity, 14 % of patients had CCS hyperintensity but neither MCP, nor brainstem hyperintensity. In contrast with CCS hyperintensity, MCP hyperintensity proved less frequent in women than in men.M. Renaud and J. Perriard contributed equally to this manuscript and should be considered as first author. 435-442 DOI 10.1007/s00415-014-7557-7 CCS and MCP hyperintensity were more frequent in FXTAS than in the other neurodegenerative disorders. The combination of CCS and MCP hyperintensity was specific of FXTAS. We confirmed the relevance of CCS hyperintensity in FXTAS and we clarified its interest compared to MCP hyperintensity. Our results support the inclusion of CCS hyperintensity in the diagnostic criteria as a new major radiological criterion.

Background:Noninvasive blood pressure (BP) measurement is essential for the study of human physiology but automatic oscillometric devices only estimate SBP and DBP using various, undisclosed algorithms, precluding standardization and interchangeability. We propose a novel approach by tracking, during pneumatic cuff deflation, the time interval from the foot to the apex of the systolic peak of the oscillometric signal, which reaches a maximum concomitant with the first Korotkoff sound.Method:In 145 study participants and patients (group 1), we measured the systolic brachial artery blood pressure by Korotkoff sound recording, conventional oscillometry, and our fully automated systolic peak foot-to-apex time interval (SFATI) technique. In 35 other patients (group 2), we compared SFATI with intra-arterial measurement.Results:In group 1, the concordance correlation coefficient was 0.989 and 0.984 between SFATI and Korotkoff sounds, 0.884 and 0.917 between oscillometry and Korotkoff sounds, and 0.882 and 0.919 between SFATI and oscillometry, respectively, on the left and right arm. In group 2, it was 0.72 between SFATI and intra-arterial measurement, 0.67 between oscillometry and intra-arterial measurement, and 0.92 between SFATI and Korotkoff sounds. In 40 study participants, the reproducibility study yielded a concordance coefficient of 0.95 for SFATI and 0.94 for Korotkoff sounds.Conclusion:SFATI BP measurement shows an excellent concordance with the auscultatory technique, offering a major improvement over current oscillometric techniques and allowing standardization.

Korotkoff sounds are associated with a high-energy low-frequency Doppler signal of identical duration, typically resulting from wall vibrations, followed by flow turbulence. Local arterial PWV decreases when cuff pressure increases. Exploiting these changes may help improve SBP assessment, which remains a challenge for oscillometric techniques.