Cholesterol is essential for neuronal physiology, both during development and in the adult life: as a major component of cell membranes and precursor of steroid hormones, it contributes to the regulation of ion permeability, cell shape, cell-cell interaction, and transmembrane signaling. Consistently, hereditary diseases with mutations in cholesterol-related genes result in impaired brain funct...

Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous prog...

Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well established serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinall...

consanguineous marriage is strongly favored in many large human populations. in the most parts of south asia, consanguineous marriage account for 20%  to over 50% of the general population. the effect of consanguinity on hereditary deafness has been well studied and documented. many authors have suggested that approximately one half  of sensory neural hearing loss in children can be attributed ...

The development of genetic testing has given patients with familial endocrine diseases the opportunity to be identified earlier in life. The importance of this technological advancement cannot be underestimated, as some of these heritable diseases have significant potential for malignancy. This article focuses on the identification and surgical management of familial endocrinopathies of the thy...

Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...

Great progress has been made in the field of hereditary metabolic diseases since the beginning of the past century, when metabolic disorders were not really understood and could only be clinically described. Due to the development of basic sciences and advances in technology, we gained insight in the biochemical and molecular basis of hereditary metabolic diseases. It opened possibilities for t...

The atopic syndrome consists of a number of diseases affecting different organs, e.g. allergic asthma, allergic rhinitis, allergic conjunctivitis and atopic eczema. A person may have one or more of these diseases that may also vary with time, depending partly on exposure to triggers. The atopic phenotype has a strong hereditary component. About 40% of children are born with this hereditary trai...

Sequence analysis of the group of proteins known to be associated with hereditary diseases allows the detection of key distinctive features shared within this group. The disease proteins are characterized by greater length of their amino acid sequence, a broader phylogenetic extent, and specific conservation and paralogy profiles compared with all human proteins. This unique property pattern pr...

DNA testing is available for a growing number of hereditary diseases in neurology and other specialties. In addition to guiding breeding decisions, DNA tests are important tools in the diagnosis of diseases, particularly in conditions for which clinical signs are relatively nonspecific. DNA testing also can provide valuable insight into the risk of hereditary disease when decisions about treati...