The cerebellum has been a popular topic for theoretical studies because its structure was
thought to be simple. Since David Marr and James Albus related its function to motor skill …

Essential tremor (ET) is one of the most common neurological disorders and can be highly
disabling. In recent years, studies on the clinical perspectives and pathophysiology have …

Abstract Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that
manifests in midlife and progressively worsens with age. SCA6 is rare, and many patients …

Gait ataxia is one of the most common and impactful consequences of cerebellar
dysfunction. Purkinje cells, the sole output neurons of the cerebellar cortex, are often …

The spatial organization of a neuronal circuit is critically important for its function since the
location of neurons is often associated with function. In the cerebellum, the major output of …

Axonal swellings (AS) are one of the neuropathological hallmark of axonal injury in several
disorders from trauma to neurodegeneration. Current evidence proposes a role of perturbed …

The prevailing belief has been that the fundamental structures of cerebellar neuronal
circuits, consisting of a few major neuron types, are simple and well understood. Given that …

Background Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating
cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and …

In vertebrates, a high density of voltage-gated Na+ channel at nodes of Ranvier and of
voltage-gated K+ channel at juxtaparanodes is necessary for rapid propagation of action …

Abstract Introduction Niemann-Pick type C2 disease (NP-C2) is a fatal neurovisceral
disorder caused by defects in the lysosomal cholesterol transporter protein NPC2 …