Purpose of review: The spinocerebellar ataxias are a phenotypically and genetically diverse group of autosomal dominant disorders that cause pathological degeneration in the cerebellum, brainstem, and retina, resulting in a wide variety of ophthalmologic signs and symptoms. Recent findings: The genetic discrimination of the spinocerebellar ataxias has advanced dramatically over the past decade....

We study semi-stable degenerations of toric varieties determined by certain partitions of their moment polytopes. Analyzing their defining equations we prove a property of uniqueness.

In this paper we classify the possible degenerate fibers which can occur in a semistable degeneration of two-dimensional tori under the assumption that the canonical bundle of the total space of the family is trivial. 1. Preliminaries Let π : X → ∆ be a proper map of a Kähler manifold X onto the unit disk ∆ = {t ∈ C :| t |< 1}, such that the fibers Xt are nonsingular compact complex manifolds f...

Neurons of the dorsal spinocerebellar tracts (DSCT) have been described to be rhythmically active during walking on a treadmill in decerebrate cats, but this activity ceased following deafferentation of the hindlimb. This observation supported the hypothesis that DSCT neurons primarily relay the activity of hindlimb afferents during locomotion, but lack input from the spinal central pattern gen...

Mutant ataxin-3 is aberrantly folded and proteolytically cleaved in spinocerebellar ataxia type 3. The C-terminal region of the protein includes a polyglutamine stretch that is expanded in spinocerebellar ataxia type 3. Here, we report on the analysis of an ataxin-3 mutant mouse that has been obtained by gene trap integration. The ataxin-3 fusion protein encompasses 259 N-terminal amino acids i...

We formulate and prove a B-model disc level large N duality result for general conifold transitions between compact Calabi-Yau spaces using degenerations of Hodge structures.

The site of lesions in Miller Fisher syndrome, especially those causing ataxia, has been controversial. A 50 year old man with features of Miller Fisher syndrome in whom MRI showed enhancing lesions in the spinocerebellar tracts at the level of the lower medulla is reported. Peripheral involvement of cranial nerves was also indicated by an abnormal blink reflex and by clinical manifestations: c...

The group of spinocerebellar ataxias (SCAs) includes more than 20 subgroups based only on genetic research. The "ataxia genes" are autosomal; the "disease-alleles" are dominant, and many of them, but not all, encode a protein with an abnormally long polyglutamine domain. In DNA, this domain can be detected as an elongated CAG repeat region, which is the basis of genetic diagnostics. The polyglu...

We compute the disk potential of Gelfand–Zeitlin monotone torus fiber in a quadric hypersurface by exploiting toric degenerations, Lie theoretical mirror symmetry, and structural result Fukaya category.

Spinocerebellar ataxia type 3 is a neurodegenerative disorder caused by the expansion of the polyglutamine repeat region within the ataxin-3 protein. The mutant protein forms intracellular aggregates in the brain. However, the cellular mechanisms causing toxicity are still poorly understood and there are currently no effective treatments. In this study we show that administration of a rapamycin...