Читать книгу Neurology - Charles H. Clarke - Страница 63

These are usually categorised by their mode of inheritance:

 autosomal dominant (AD)

 autosomal recessive (AR)

 X‐linked

 mitochondrial inheritance.

Mechanisms typically comprise:

 Mutations or other gene defects that affect a protein or an ion channel

 Nucleotide repeat expansions such as in Huntington’s disease

 Abnormalities in chromosomes, such as trisomy 21 (Down’s)

 Digenic (two‐locus) inheritance, such as in some familial Parkinson’s cases

Conditions where genes and environment appear to interact, in an unproven way, such as in MS are less clear.