ABSTRACT
This chapter summarizes of the major findings of Mendelian neurological disease and, although these diseases are individually rare, cumulatively they account for a very substantial neurological burden and many cases find their way into general neurological practice. It illustrates the likelihood of making a definite molecular diagnosis will first depend upon an accurate determination of the clinical phenotype and a clear view of the mode of inheritance given by the family history. Deoxyribonucleic acid (DNA) provides the molecular basis for the genes that encode all proteins. DNA is made up of two helical polynucleotide chains that form a double helix. Neuroacanthocytosis is an umbrella term for syndromes that consist of red blood cell abnormalities and neurological features. The DNA strands are packaged into chromosomes. Humans have 23 pairs of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes. Genes are arranged in a specific order on the chromosome.
