Spinocerebellar degeneration is a heredofamilial disease of unknown aetiology. The shape of erythrocytes as revealed by scanning electron microscopy was studied in this disease. Echinocytes I, as defined by Bessis, were seen more frequently in spinocerebellar degeneration than in age and sex matched controls (7.2 +/- 1.5% in spinocerebellar degeneration, 3.4 +/- 1.2% in controls, p less than 0....

We find presentations for subalgebras of invariants of the coordinate algebras of binary symmetric models of phylogenetic trees studied by Buczynska and Wisniewski in [BW]. These algebras arise as toric degenerations of rings of global sections of weight varieties of the Grassmanian of two planes associated to the Plücker embedding, and as toric degenerations of rings of invariants of Cox-Nagat...

Introduction 1 1. Kanev’s construction and Prym-Tyurin varieties of E6-type 7 2. The E6 lattice 11 3. Degenerations of Jacobians and Prym varieties 13 4. Degenerations of Prym-Tyurin-Kanev varieties 15 5. The global geometry of the Hurwitz space of E6-covers 20 6. The Prym-Tyurin map along boundary components of Hur 30 7. Ordinary Prym varieties regarded as Prym-Tyurin-Kanev varieties 39 8. The...

The recent advances in genetic analysis have facilitated the classification of autosomal dominant or recessive spinocerebellar ataxia. Although differential diagnosis of spinocerebellar ataxia is clinically very complicated, MRI characteristics may be an important tool for diagnosis. In the present review article, we summarize the skills of neuroradiology for a diagnosis of various types of spi...

Speyer and Sturmfels [SpSt] associated Gröbner toric degenerations Gr2(C) of Gr2(Cn) to each trivalent tree T with n leaves. These degenerations induce toric degenerations M r of Mr, the space of n ordered, weighted (by r) points on the projective line. Our goal in this paper is to give a geometric (Euclidean polygon) description of the toric fibers as stratified symplectic spaces and describe ...

Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century...

In this paper, we will calculate the eta functions for torus bundles over S 1 which arise from boundaries of degenerations of Abelian varieties when the local monodromies are unipotent or have nite orders. By using the special values of the eta functions, we obtain the signature defects for such degenerations.

BACKGROUND Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. HYPOTHESIS/OBJECTIVES The objective was to identify the mutation causing the spinocere...

We study Gröbner degenerations of Schubert varieties inside flag varieties. consider toric induced by matching fields and semi-standard Young tableaux. describe an analogue field ideals for the variety give a complete characterization among them. use combinatorial approach to standard monomial theory show that block diagonal rise degenerations. Our methods results combinatorics permutations ass...

BACKGROUND Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was...