Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Background: Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. To date, CACNA1G mutations have been reported in autosomal dominant spinocerebellar ataxia designated SCA42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of PTU type.

Methods And Results: We report the case of a two-month-old infant with a de novo pathogenic variation of CACNA1G who presented with PTU associated with congenital ataxia and other periodic neurological manifestations.

A novel variant associated with an atypical moderate and late-onset LCHAD deficiency.

Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations are observed. Because long-chain fatty acid oxidation is selectively affected, supplementations with short/medium-chain fats represent energetic sources bypassing the enzymatic blockade.

The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical Density.

Background: Carotenoids and docosahexaenoic acid (DHA) were identified as essential components for eye health and are both naturally present in eggs.

Objective: We aimed to evaluate the effect of the daily consumption of two eggs enriched with lutein/zeaxanthin and DHA on macular pigment optical density (MPOD) and on circulating xanthophyll and fatty acid concentrations in healthy participants.

Methods: Ninety-nine healthy volunteers consumed either two standard eggs or two enriched eggs per day for 4 months.

Pathogenic variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Pathogenic variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to visual impairment are still poorly characterized. We conducted a deep phenotyping study on a cohort of 22 individuals carrying pathogenic variants to document the neurodevelopmental and ophthalmological manifestations, in particular the structural and functional changes within the retina and the optic nerve, which have not been detailed previously.

Lateral elbow tendinopathy: surgery versus extracorporeal shock wave therapy.

Lateral elbow pain caused by tendinopathy - tendinosis - or tennis elbow is a highly prevalent problem. Unfortunately, no treatment method can guarantee clinical success. Inspired by the lithotripsy technique used for kidney stones, extracorporeal shock wave therapy (ESWT) has been introduced as an alternative to surgical treatment 25 years ago.