Genetic diseases neurological disorders

Wilson s disease A disorder of copper metabolism characterized by cirrhosis of the liver and neurologic manifestations a potentially fatal genetic disorder that causes the body to retain copper. 

Genetic mutations are a major cause of DPD impairment (24,58). Polymorphism of the DPYD gene has been well characterized as an autosomal recessive disease, with 0.5% and 3%-5% of the Caucasian population being subsequently affected by total and partial deficiencies, respectively (7,59,60). Thymine uraciluria is a condition caused by inherited total DPD deficiency that can be either associated with neurological disorders or be asymptomatic (61,62,63). 

When Pol II transcription halts at the site of a DNA lesion, TFIIH can interact with the lesion and recruit the entire nucleotide-excision repair complex. Genetic loss of certain TFIIH subunits can produce human diseases. Some examples are xeroderma pigmentosum (see Box 25-1) and Cockayne s syndrome, which is characterized by arrested growth, photosensitivity, and neurological disorders. ... 

Morris HR, Baker M, Yasojima K, Houlden H, Khan MN, Wood NW, et al. (2002) Analysis of tau haplotypes in Pick s disease. Neurology 59 443-445 Morris HR, Lees Al, Wood NW (1999) Neurofibrillary tangle parkinsonian disorders-tau pathology and tau genetics. Mov Disord 14 731-736... 

Biotinidase deficiency is an autosomal recessive disorder with an estimated incidence of 1 in 72,000-126,0(X). Many newborn-screening programs of genetic diseases include testing for this enzyme. Prompt treatment with oral biotin administration of 5-20 mg/d in affected infants will prevent clinical consequences. If the treatment is delayed, neurological manifestations (e.g., hearing loss and optic atrophy) and developmental delay occur and may not revert to normal. 

Neurology is expected to be one of the most rapidly advancing disciplines of the twenty-first century. Its realm is expanding to encompass new areas of genetics, metabolism, sleep disorders, vascular diseases, and neuroimmunology. 

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