BackgroundAbnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of NOTCH2NLC-related NIID in China.MethodsPatients with NOTCH2NLC-related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.ResultsIn the 247 patients with NOTCH2NLC-related NIID, 149 cases were sporadic, while 98 had a positive family history. The most common manifestations were paroxysmal symptoms (66.8%), autonomic dysfunction (64.0%), movement disorders (50.2%), cognitive impairment (49.4%) and muscle weakness (30.8%). Based on the initial presentation and main symptomology, NIID was divided into four subgroups: dementia dominant (n=94), movement disorder dominant (n=63), paroxysmal symptom dominant (n=61) and muscle weakness dominant (n=29). Clinical (42.7%) and subclinical (49.1%) peripheral neuropathies were common in all types. Typical diffusion-weighted imaging subcortical lace signs were more frequent in patients with dementia (93.9%) and paroxysmal symptoms types (94.9%) than in those with muscle weakness (50.0%) and movement disorders types (86.4%). GGC repeat sizes were negatively correlated with age of onset (r=−0.196, p<0.05), and in the muscle weakness-dominant type (median 155.00), the number of repeats was much higher than in the other three groups (p<0.05). In NIID pedigrees, significant genetic anticipation was observed (p<0.05) without repeat instability (p=0.454) during transmission.ConclusionsNIID is not rare; however, it is usually misdiagnosed as other diseases. Our results help to extend the known clinical spectrum of NOTCH2NLC-related NIID.

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In most Asian high mountain areas, ground-based observations of precipitation are sparse. It is urgent to assess and apply satellite precipitation products (SPPs). In recent years, relatively dense rain gauges have been established in five tributaries in Lhasa. Therefore, based on high-density rain gauges, two SPPs (GPM IMERG V05B, TRMM 3B42V7) were evaluated at the grid, region, and time scales with different statistical indices in the five tributaries. Besides, the dependence of SPPs performances on the precipitation intensities, elevation, and slope was investigated. The results indicate that: (1) both 3B42V7 and IMERG showed similarly low correlation with rain gauges at daily scale and high correlation at monthly scale, but 3B42V7 tended to suffer from systematic overestimation of monthly precipitation; (2) IMERG product outperformed 3B42V7 except for obvious overestimation of trace precipitation (0.1~1 mm day−1) and underestimation of torrential precipitation (>50 mm day−1); (3) the precipitation over the five tributaries showed significant spatial variability with difference of characteristic values (e.g., average daily precipitation) more than 20% in some IMERG grids and most 3B42V7 grids; (4) elevation had an obvious effect on the accuracy of 3B42V7 and IMERG, and the accuracy of the two SPPs decreased significantly with the increase of elevation.

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