There are various genetic disorders which can involve the
nervous system or confined to the nervous system alone. This is
a brief review on some neurogenetic disorders. Gene mutations
disorders are the most common types of neurogenetic disorders.
Myotonic syndromes, muscular dystrophies and motor neuron
disease are some examples of these disorders. Genetic imprinting
in some disorders like Prader–Willi syndrome and Angelman’s
syndrome can be seen. In both of these syndromes there is a
disruption on a part of chromosome 15 which the autosomal
genes differential expression depends on their parental origin
(maternal genes disruption in Prader–Willi syndrome and father’s
genes disruption in Angelman’s syndrome). Duplication of part of
chromosome 17 which includes the peripheral myelin protein 22
gene coding, can cause some types of hereditary motor and sensory
neuropathy. The patients with such disorder would develop
sensory loss, distal weakness and wasting. Hereditary neuropathy
with a liability to pressure palsies is an example of neurogenetic
disorders with gene deletions. In this disorder there is a deletion on
chromosome 17. This large deletion includes the peripheral myelin
protein 22 gene coding. The affected patients can develop recurrent
focal entrapment neuropathies. Mitochondrial disorders are other
disorders which may result from mitochondria genome defects and
nuclear-coded genes defects [1-2].
Disorders related to Trinucleotide repeat are other
neurogenetic disorders. Expanded and abnormal triplet repeat
in the genome can cause some disorders to appear. Friedreich’s
ataxia and Huntington’s disease are two examples of Trinucleotide
repeat disorders [3-4]. As the new genetic studying methods have
been developed and is now under development, finding the genetic
basis of some neurological disorders can be possible due to such
developments and this causes to know the certain neurogenetic
pathologies better.