Overall Role of Contactins Expression in Neurodevelopmental Events and Contribution to Neurological Disorders.

Background: Neurodegenerative disorders may depend upon a misregulation of the pathways which sustain neurodevelopmental control. In this context, this review article focuses on Friedreich ataxia (FA), a neurodegenerative disorder resulting from mutations within the gene encoding the Frataxin protein, which is involved in the control of mitochondrial function and oxidative metabolism.

Objective: The specific aim of the present study concerns the FA molecular and cellular substrates, for which available transgenic mice models are proposed, including mutants undergoing misexpression of adhesive/morphoregulatory proteins, in particular belonging to the Contactin subset of the immunoglobulin supergene family.

The Cerebellar Dopaminergic System.

In the central nervous system (CNS), dopamine (DA) is involved in motor and cognitive functions. Although the cerebellum is not been considered an elective dopaminergic region, studies attributed to it a critical role in dopamine deficit-related neurological and psychiatric disorders [e.g.

Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration.

In this study, the neural phenotype is explored in rodent models of the spinocerebellar disorder known as the Friedreich Ataxia (FA), which results from mutations within the gene encoding the Frataxin mitochondrial protein. For this, the M12 line, bearing a targeted mutation, which disrupts the Frataxin gene exon 4 was used, together with the M02 line, which, in addition, is hemizygous for the human Frataxin gene mutation (Pook transgene), implying the occurrence of 82-190 GAA repeats within its first intron. The mutant mice phenotype was compared to the one of wild type littermates in regions undergoing differential profiles of neurogenesis, including the cerebellar cortex and the spinal cord by using neuronal (β-tubulin) and glial (Glial Fibrillary Acidic Protein) markers as well as the Contactin 1 axonal glycoprotein, involved in neurite growth control.