Congenital insensitivity to pain: a 20 year follow up.
نویسندگان
چکیده
منابع مشابه
Congenital insensitivity to pain: a 20 year follow up.
The exact nosological status of "congenital insensitivity to pain" remains in doubt. Possible pathological correlates of this clinical syndrome include sensory neuropathy, central lesions at the level of the reticular formation or dorsal horn of the spinal cord, or a central indifference to, or asymbolia for, pain. The reassessment of two members of a kindred previously reported more than 20 ye...
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Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
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Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical regio...
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One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, ...
متن کامل[Congenital insensitivity to pain with anhydrosis].
Congenital insensitivity to pain with anhydrosis (CIPA) is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating. Familiarity to this condition is important to avoid misdiagnosing it with leprosy and other peripheral nerve diseases. An inability to feel pain may lead to repeated self-trauma (tongue, lips and finger tips) ultimately lea...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1994
ISSN: 0022-3050
DOI: 10.1136/jnnp.57.8.973