Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

INTRODUCTION: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy. MATERIALS AND METHODS: Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES). RESULTS: A 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss. Multimodal fundus imaging revealed a peculiar macular dystrophy. Given the specific association of macular dystrophy and SPG, a Kjellin syndrome was suspected and genetic testing performed. WES revealed biallelic pathogenic variants in SPG11, co-segregating with disease in the family. CONCLUSION: Careful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.

Acoustic monitoring of compaction in cohesive granular materials.

We study the transition from cohesive to noncohesive states of cemented granular materials (synthetic rocks) under oedometric loading, combining simultaneous measurements of ultrasound velocity and acoustic emission (AE: microseosmicity). Our samples are agglomerates made of glass beads bonded with a few percent of cement, either ductile or brittle. These cemented granular samples exhibit an inelastic compaction beyond certain axial stresses likely due to the formation of compaction bands, which is accompanied by a significant decrease of compressional wave velocity. Upon subsequent cyclic unloading-reloading with constant consolidation stress, we found the mechanical and acoustic responses like those in noncohesive granular materials, which can be interpreted within the effective medium theory based on the Digby's bonding model. Moreover, this model allows P-wave velocity measured at vanishing pressure to be interpreted as an indicator of the debonding on the scale of grain contact. During the inelastic compaction, stick-slip-like stress drops were observed in brittle cement-bonded granular samples accompanied by the instantaneous decrease of the P-wave velocity and AEs which display an Omori-like law for foreshocks, i.e., precursors. By contrast, mechanical responses of ductile cement-bonded granular samples are smooth (without visible stick-slip-like stress drops) and mostly aseismic. By applying a cyclic loading-unloading with increasing consolidation stress, we observed a Kaiser-like memory effect in the brittle cement-bonded sample in the weakly damaged state which tends to disappear when the bonds are mostly broken in the noncohesive granular state after large-amplitude loading. In this paper, we show that the macroscopic ductile and brittle behavior of cemented granular media is controlled by the local processes on the scale of the bonds between grains.