A large yeast two-hybrid study investigating whether the proteins mutated in different forms
of spinocerebellar ataxia have interacting protein partners in common suggests that some …

In this issue of Cell, Lim et al.(2006) describe a protein-protein interaction network for
inherited human ataxias, a group of diseases characterized by degeneration of cerebellar …

The positional candidate gene approach accelerates the discovery of genes involved in
disease. However, the properties of such disease genes are very diverse and the sample …

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 …

Diseases classified as spinocerebellar ataxias typically feature ataxia as a prominent
feature, but many also are associated with various other neurological deficits. The term …

The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic
nomenclature, are a rare group of progressive neurodegenerative disorders characterized …

Many human inherited neurodegenerative disorders are characterized by loss of balance
due to cerebellar Purkinje cell (PC) degeneration. Although the disease-causing mutations …

Background Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused
by a polyglutamine expansion in the ataxin-1 protein. The pathogenic mechanism resulting …

Importance The hereditary progressive ataxias comprise genetic disorders that affect the
cerebellum and its connections. Even though these diseases historically have been among …

Hereditary cerebellar ataxias (HCAs) are clinically and genetically heterogeneous
neurodegenerative disorders, characterised by a cerebellar syndrome and other …