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The disorder is caused by a mutation of the purine nucleoside phosphorylase (PNP) gene, located at chromosome 14q13.1. [3] [4] This mutation was first identified by Eloise Giblett, a professor at the University of Washington, in 1975. [5] PNP is a key enzyme in the purine catabolic [6] pathway, and is required for purine degradation.
A neurological examination is the assessment of sensory neuron and motor responses, especially reflexes, to determine whether the nervous system is impaired. This typically includes a physical examination and a review of the patient's medical history , [ 1 ] but not deeper investigation such as neuroimaging .
An upper limb neurological examination is part of the neurological examination, and is used to assess the motor and sensory neurons which supply the upper limbs. This assessment helps to detect any impairment of the nervous system, being used both as a screening and an investigative tool.
The American Spinal Injury Association (ASIA), formed in 1973, [2] publishes the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI), [3] which is a neurological exam widely used to document sensory and motor impairments following spinal cord injury (SCI). [4] The ASIA assessment is the gold standard for ...
The diagnosis of polyneuropathy begins with a history (anamnesis) and physical examination to ascertain the pattern of the disease process (such as arms, legs, distal, proximal), if they fluctuate, and what deficits and pain are involved. If pain is a factor, determining where and how long it has been present is important; one also needs to ...
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Unilateral loss indicates a possible nerve lesion or deviated septum. This test is usually skipped on a cranial nerve exam. [1] The short axons of the first cranial nerve regenerate on a regular basis. The neurons in the olfactory epithelium have a limited life span, and new cells grow to replace the ones that die off.
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