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Hereditary sensory and autonomic neuropathies are a clinically and genetically heterogenous group of hereditary diseases of the peripheral nervous system. HSAN type IV (also named CIPA for congenital insensitivity to pain with anhidrosis) usually presents as a congenital combination of insensitivity to pain and anhidrosis, leading to self-mutilation and unexplained fever. Other features are mental retardation, bone fractures, bad wound healing, corneal ulcerations and other abnormalities.
Histologically, small unmyelinated nerve fibers are absent and the quantity of small myelinated fibres is reduced. Sweat glands are present but not innervated. The nerve conduction velocities should be normal. Intracutaneous injection of histamine shows no axon flaring, and the pilocarpine iontophorese test reveals no sweating.
HSAN type IV is inherited in an autosomal recessive manner. In 1996, Indo et al. showed that mutations in the NTRK1 (neurotrophic tyrosine receptor kinase 1) gene are responsible for HSAN type IV. NTRK1 encodes a receptor tyrosine kinase for the nerve growth factor (NGF). Several point mutations, deletions and splice site mutations have been identified in HSAN type IV patients.
In order to search for NTRK1 mutations, the entire coding region of NTRK1 is amplified in 12 fragments by polymerase chain reaction and sequenced subsequently.
Dr. med. S. Wieczorek
Humangenetik
Gebäude MA 5
Ruhr-Universität
Universitätsstr. 150
44801 Bochum
GermanyTel.: +49 234 32 23831
Fax: +49 234 32 14196
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