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Mad Cow, Chronic Wasting, and Other Prion Diseases
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Case Report of "Miss H"
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Josef Gerstmann described members of the "H" family suffering from an inherited disease now called Gerstmann-Sträussler-Scheinker syndrome, or GSS (Scheinker’s name wasn’t attached to the disease at first). The disease proved to be a transmissible spongiform encephalopathy in experiments reported in 1981 by D. Carleton Gajdusek’s team at the National Institutes of Health. In 1989, Stanley Prusiner and Karen Hsaio showed that GSS resulted from a mutation in the prion protein gene. The change in the genetic sequence is a point mutation: a single nucleotide was changed, resulting in an altered amino acid in the prion protein. Several different point mutations are now known to produce GSS.
Gerstmann described an unusual reflex action of one of his GSS patients. Turning her head one way, either by herself or by the force of a physician’s hands, would cause her arms to swing to the opposite side, and vice versa. Below is a translation of that 1928 case report. (The original appeared as: "Über ein noch nicht beschriebenes Reflexphänomen bei einer Erkrankung des zerebellaren Systems," in Wiener Medizinische Wochenschrift, Volume 78, pages 906–908, 1928.)
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On a Previously Undescribed Reflex Phenomenon in a Disease of the Cerebellar System.
By lecturer Dr. Josef Gerstmann
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After a demonstration at the Vienna Society for Psychiatry and Neurology in March 1928.
The disease syndrome of a 26-year-old patient, who has been under my observation at the Vienna psychiatric clinic for some time and has been displaying the reflex phenomenon to be described, is quite noteworthy in itself. First of all, with respect to the nature of the illness, it is of interest that both according to the patient and to her relatives it started acutely.
The disease broke out in the fall of 1926 with an initially severe, over time gradually worsening imbalance while standing and walking. The illness came as such a surprise that relatives, owing to the patient’s insecure, staggering walk, initially thought she was drunk. Simultaneously with the patient’s imbalance, people noticed a progressive change in her temperament; she became irritable, irascible, intolerant, furious; her mood was usually cheerful for no reason. They also observed a decrease in her intellectual capacities, compared to her prior behavior.
An objective neurological examination reveals the following: a cerebellar ataxia of an advanced degree that appears in its typical way and represents the main symptom of the condition. The patient stands and walks with her legs apart, she deviates from a straight line while walking, she sways and staggers in various directions. Ataxia is also observed during movements of the legs while she is lying down. Furthermore there is a horizontal nystagmus when looking sideways and a vertical one when looking upwards, an intention tremor in the upper extremities during directed movements, a lack of the patellar reflex and the Achilles tendon reflex, a positive Babinski reflex on both sides, a slight decrease in strength in both legs, a mild sensory disturbance in the distal parts of the lower extremities. No other pathological neurological symptoms can be observed. Ophthalmological and otological results are unexceptional. Blood and fluid chemistries are normal.
The psychological changes already noted in the anamnesis could be confirmed while observing the patient over several months. These changes are more pronounced in an affective than in an intellectual way. The patient’s predominant mood is silly-cheerful-euphoric with a tendency to be labile. Besides there is an unmistakable decrease in intelligence of a progressive nature that has already advanced to a considerable degree of dementia. Consequently, her insight into the disease is very poor.
There are definite hereditary circumstances here: the patient’s father as well has her paternal grandfather and great-grandfather are said to have suffered from the same disease. As far as the investigation can tell, they had shown the same symptoms in an analogous fashion. However, their disease started at a later age than in our patient; at about age forty in the father and between age thirty and forty in the grandfather. There are some notes about the father available from the hospital in Baden where he received care during the last years of his illness. His disease also started acutely with imbalance and psychological changes but became chronic-progressive later on until his death eight years after the disease onset. His symptoms – according to the notes – largely correspond to those of our patient. Furthermore a cousin of the father as well as one of his sons are said to have had the same disease. Until our patient fell ill, only male members of the ascendance had been affected. There are no hints indicating consanguinity of parents in the respective generations.
The clinical diagnosis of the case does not present any difficulties. The patient was apparently ((text missing here))
…hint. One can assume with considerable certainty a combination of Friedreich’s hereditary ataxia and Marie’s ataxia (cerebellar hederoataxia). Apart from the fact that in our case the inheritance of the illness can be traced over several generations, the symptom groups are on the whole characteristic. However the acute onset of the symptoms and the more pronounced psychological changes are striking.
The main reason however for communicating this case is a peculiar reflex phenomenon that we have never seen in this form among the many patients of our clinic and that – to my knowledge – is not yet known in the literature.
This reflex phenomenon, in mere descriptive terms, consists of the following: If the patient stretches out her arms in front of her and her head is actively or passively turned to one side or the other, this turning of the head, in whatever position the body is, leads to a strong, clearly reflectorily, crossing of the arms in the middle. At the same time, the contralateral arm reaches a higher level (Fig. 1 and 2). The crossing of the arms is the result of a simultaneous deviation, starting immediately and extensively after turning the head to the side, of the contralateral arm in the direction of the head and of the homolateral arm in the opposite direction, or a full adduction movement of both extremities, respectively. It happens in the typical form of a reflex. The higher position, or upward movement, respectively, of the contralateral arm is the result of it being stretched from the shoulder joint, with reflectory promptness, at the moment when the head moves.
The entire reflex regularly occurs at great speed. The altered positions of the two extremities (including the difference in height) persist as long as as the head is kept in the changed position. It is essentially irrelevant whether or not the eyes are closed. As soon as the head returns to its normal position, the outstretched arms immediately return to their original positions. There is no after-effect. The experiment can be repeated indefinitely without any loss of the phenomenon.
The reflex does not only occur when both arms are stretched out. If one arm is stretched out, it also deviates upward in response to turning the head to the side.
Changing the position of the head in space did not influence the course and the degree of the reflex phenomenon. It happened in the same way while standing, sitting or lying (either on the back or on the side), with the head stretched or bent. Furthermore the extent of the reflex was independent of the level of the outstretched arms in space, especially whether they were below or above the horizontal level of the shoulders.
The described reflex phenomenon was constantly present during the entire observation period. Its extent always paralleled the strength of the stimulus, the head turning.
It is difficult to give a definite pathophysiological interpretation of the described reflex phenomenon. Phenomenologically its seems to belong to the postural reflexes and startle reflexes first discovered by Magnus and Kleyn in animals. In the last few years, investigations by Goldstein and Riese, Zingerle, Fischer and Wodak, Schaltenbrand, Schilder and Hoff and others also made them known in humans and developed them in various directions. Especially with regard to its stimulus, the reflex phenomenon best corresponds to a certain manifestation of these reflexes called tonic neck reflex. In our case it would represent a pathological change of the so-called postural reflexes of a nature that has never been observed before.
Compared to the behavior of postural and startle reflexes normally observed in humans under normal and pathological conditions, there were some extensive deviations. However, due to lack of space in this special issue of the Wochenzeitschrift we will discuss these elsewhere in detail.*
We only want to mention the following here. One important deviation in our case is the very strong convergence reaction of both arms, spontaneously already fairly visible but only becoming extensive after the head is turned, that leads to their crossing. This is in contrast to the increased divergence tendency usually observed in cerebellar diseases.
Another important difference – directly contrary to the usual behavior – is that upon turning the head to one side the contralateral extremity (the so-called "skull arm") stretches considerably in the shoulder joint and reaches a higher level, whereas the homolateral extremity (the so-called "jaw arm") remains unaffected or bends a little in the shoulder, or sinks slightly, respectively. This is even more conspicuous since in our case, there is no sign of a one-sidedness of the cerebellar disease.
A change in the state of consciousness, as described for postural and startle reflexes of humans, was never observed during reflex movements in numerous examinations. The patient usually did not only promptly perceive making the movement but also had a correct image of the extent of the reactive position changes of her extremities.
As far as the discussed reflex phenomenon can be regarded as a pathological version of postural reflexes, it seems suitable as an important tool to prove the – for several reasons still disputed – reflex nature of postural and startle reflexes. The repeatedly raised objection that the rising of the homolateral (chin-) arm and the deviation of the arms and …(text missing)…normally occuring in response to turning the head to the side is a …(text missing)….feature that is given in to arbritarily, loses its power with regard to our case. Here it is the contralateral arm that shows the raising reaction whereas the homolateral arm deviates in a direction opposite to that in which the head turns.
Summary: Here we have communicated a previously unknown pathological reflex phenomenon that is caused by a well characterized (hereditary) disease in the area of the cerebellar system. In general this phenomenon seems to be identical to postural and startle reflexes (especially neck reflexes) or at least to have a close pathophysiological relationship with them. However its symptoms differ widely from the experimental and clinical behavior so far observed for these.
Fig. 1 Turning of the head to the right. The outstretched arms cross reflectorily in the middle, at the same time the left arm rises.
Fig. 2 (text missing)
* On this occasion we also want to comment on the problem of postural and startle reflexes in adult humans.
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