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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.
In this model, a person's raw score on a test is compared to a large general population normative sample, that should ideally be drawn from a comparable population to the person being examined. Normative studies frequently provide data stratified by age, level of education, and/or ethnicity, where such factors have been shown by research to ...
Repetitive nerve stimulation is a variant of the nerve conduction study where electrical stimulation is delivered to a motor nerve repeatedly several times per second. By observing the change in the muscle electrical response (CMAP) after several stimulations, a physician can assess for the presence of a neuromuscular junction disease, and differentiate between presynaptic and postsynaptic ...
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 .
The Cambridge Neuropsychological Test Automated Battery (CANTAB), [1] originally developed at the University of Cambridge in the 1980s but now provided in a commercial capacity by Cambridge Cognition, is a computer-based cognitive assessment system consisting of a battery of neuropsychological tests, administered to subjects using a touch screen computer.
The Halstead–Reitan Neuropsychological Test Battery (HRNB) and allied procedures is a comprehensive suite of neuropsychological tests used to assess the condition and functioning of the brain, including etiology, type (diffuse vs. specific), localization and lateralization of brain injury.
Two-alternative forced choice (2AFC) is a method for measuring the sensitivity of a person or animal to some particular sensory input, stimulus, through that observer's pattern of choices and response times to two versions of the sensory input.
Pain - tested with a neurological pin; Proprioception (sense of joint position) - tested by moving the thumb while the patients eyes are closed. Patient is then asked whether the thumb is moved up or down. Vibration - tested with a 128 Hz tuning fork placed at the first joint of the thumb; Temperature - tested with hot and cold test tubes.