The gene in neurobiology.

is a gene whose alternative splicing yields epithelial, neuronal, and muscular isoforms. The autosomal recessive () spontaneous mouse mutation causes degeneration of spinocerebellar tracts as well as peripheral sensory nerves, dorsal root ganglia, and cranial nerve ganglia. In addition to mutants, axonopathy and neurofilament accumulation in perikarya are features of two other murine lines with spontaneous mutations, targeted knockout mice, Tg4 transgenic mice carrying two deleted exons, mice with trapped actin-binding domain-containing isoforms, and conditional Schwann cell-specific knockout mice. As a result of nerve damage, mutants display dystonia and ataxia, as seen in several genetically modified models and their motor coordination deficits have been quantified along with the spontaneous nonsense mutant, the conditional Schwann cell-specific knockout, the conditional mutant, and the Dst-b isoform specific mutant. Recent findings in humans have associated mutations of the Dst-b isoform with hereditary sensory and autonomic neuropathies type 6 (HSAN-VI). These data should further encourage the development of genetic techniques to treat or prevent ataxic and dystonic symptoms.