Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. Diagnosis is made by integrating clinical data and radiological signs. Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far. Our study aimed to provide a longitudinal analysis of the changes in the cerebellum (Cb), corpus callosum (CC), ventricular system, and striatum in a patient suffering from H-ABC and in the taiep rat. We correlated the MRI signs of the patient with the results of immunofluorescence, gait analysis, segmentation of cerebellum, CC, and ventricular system, performed in the taiep rat. We found that cerebellar and callosal changes, suggesting a potential hypomyelination, worsened with age, in concomitance with the emergence of ataxic gait. We also observed a progressive lateral ventriculomegaly in both patient and taiep, possibly secondary to the atrophy of the white matter. These white matter changes are progressive and can be involved in the clinical deterioration. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood.

Auditory impairment in H-ABC tubulinopathy.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease due to mutations in TUBB4A. Patients suffer from extrapyramidal movements, spasticity, ataxia, and cognitive deficits. Magnetic resonance imaging features are hypomyelination and atrophy of the striatum and cerebellum. A correlation between the mutations and their cellular, tissue and organic effects is largely missing. The effects of these mutations on sensory functions have not been described so far. We have previously reported a rat carrying a TUBB4A (A302T) mutation and sharing most of the clinical and radiological signs with H-ABC patients. Here, for the first time, we did a comparative study of the hearing function in an H-ABC patient and in this mutant model. By analyzing hearing function, we found that there are no significant differences in the auditory brainstem response (ABR) thresholds between mutant rats and WT controls. Nevertheless, ABRs show longer latencies in central waves (II-IV) that in some cases disappear when compared to WT. The patient also shows abnormal AEPs presenting only Waves I and II. Distortion product of otoacoustic emissions and immunohistochemistry in the rat show that the peripheral hearing function and morphology of the organ of Corti are normal. We conclude that the tubulin mutation severely impairs the central hearing pathway most probably by progressive central white matter degeneration. Hearing function might be affected in a significant fraction of patients with H-ABC; therefore, screening for auditory function should be done on patients with tubulinopathies to evaluate hearing support therapies.

Relationship of the drying process of a corn grain with the thermal emissivity and optical interference in the mid infrared range.

A study of the effect of the thin layer of free water in corn kernels on the emissivity and interference in the mid infrared range was performed. The emissivity was measured through thermal infrared images by direct method for 8 days, allowing observance that the thickness of free water modifies the quantity of emitted energy and emissivity; however, in the first days when the layer of free water is not optically thick the interference caused by the thin film of superficial water averts a correct measurement of the emissivity. This interference effect was studied and characterized, finding that the number of oscillations in the energy of the grain, observed and counted in a very small area, can be used to compute the thickness of the free water layer contained between the endosperm and the pericarp of the grain.

Flicker minimization in an LCoS Spatial Light Modulator.

We present a method for reducing the phase flicker originated by the pulsed modulation of a Liquid Crystal on Silicon (LCoS) Spatial Light Modulator (SLM). It consists in reducing the temperature of the LCoS in a controlled way, in order to increase the viscosity of the liquid crystal. By doing this, we increase the time response of the liquid crystal, and thus reduce the amplitude of phase fluctuations. We evaluate the efficacy of this method quantifying the temporal evolution of phase shift using an experiment that is insensitive to optical polarization fluctuations. Additionally, we determine the effect of the temperature reduction on the effective phase modulation capability of the LCoS. We demonstrate that a reduction of up to 80% of the flicker initial value can be achieved when the LCoS is brought to -8 °C.