Journal of Clinical Genomics

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About Neurogenetics disorders

A neurogenetic disorder is defined as a disease caused by a defect in 1 or more genes that affect the differentiation and function of neuroectoderm and its derivatives. There are 2 types of neurogenetic disorders. Type 1 neurogenetic disorders include those resulting from malfunction of genes expressed in the neuroectoderm. Most of the classic inherited disorders belong to this category. Type 2 neurogenetic disorders are those in which neurologic manifestations are caused indirectly by the abnormal function of a gene not expressed in the nervous system. Example; Cerebral gigantism, Bipolar disorder, HTLV-1 associated myelopathy etc. Advances in the molecular biology of genetic disorders, sequencing, and identification of gene mutations have enabled molecular diagnosis of these disorders.

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