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Classic articles of 19th-century American neurologists: a critical review.

The purpose of this article is to critically review citation classics of 19th-century members of the American Neurological Association (ANA), and to elaborate what these works contributed and why they continue to be important. Most classic articles of 19th-century American neurologists were initial or early descriptions of clinical conditions, diseases, or procedures. These include descriptions by Beard of the Jumping Frenchmen of Maine; by Sachs of "amaurotic family idiocy" (Tay-Sachs disease); by Hun of the lateral medullary syndrome; by Mitchell of phantom limbs; and by Dana of familial tremor. Few of these were the initial description, although most were clear and fairly complete by modern standards. Several citation classics were cited mainly as a point of comparison with later events or developments, including those by Corning on spinal anesthesia, Bartholow on electrical stimulation of the brain, Mitchell on the status of American psychiatry, and Starr on childhood brain tumors. The reports of Corning, Bartholow, and Mitchell have been the subjects of continued controversy. The only examples of basic neuroscience among the citation classics are the classic studies by Onuf and Collins involving ablation of portions of the sympathetic chain in cats, and Onuf's description of the nucleus of Onuf in the human spinal cord. Onuf's basic science work was made possible by a unique and short-lived multidisciplinary research environment created at the New York State Pathological Institute for the scientific investigation of insanity and neurologic diseases.

Bibliometrics↗

Further studies on metachromasia in cultured human fibroblasts. Staining of glycosaminoglycans (mucopolysaccharides) by Alcian blue in salt solutions.

Staining with Alcian blue in various concentrations of magnesium chloride (alcianophilia) has been found to be a useful supplement to metachromatic staining to detect increased cellular concentrations of glycosaminoglycans (mucopolysaccharides). In many instances alcianophilia at 0.3 M MgCl(2) is more specific than metachromasia and does not give "false positives" sometimes found in normal individuals and in those with cystic fibrosis, Gaucher's disease, familial amaurotic idiocy, and pseudoxanthoma elasticum. On the other hand, it gives a "false negative" reaction in the Sanfilippo syndrome (perhaps because the characteristically elevated glycosaminoglycan in this disease, heparan sulfate, is not synthesized by cultured skin fibroblasts), and in the Marfan syndrome. It detects the Maroteaux-Lamy syndrome, which metachromasia does not. The "false positives" given by metachromasia in all six families studied thus far are genuine, reproducible reactions that can be traced through at least three generations of normal individuals within a family. There is therefore, in these families, a genetic factor that causes such metachromasia, but it is not increased glycosaminoglycan concentration.

Adult↗

Comparison of CSF-free amino acid concentrations among various neuropathological conditions.

The level of free amino acids in cerebrospinal fluid from eight patients in comatose states has been determined. The variations of cerebrospinal fluid-free amino acids observed in coma have been compared with those reported by other authors in patients affected by epilepsy, multiple sclerosis, infantile amaurotic idiocy (GM2-gangliosidosis) and phenylketonuria.

Amino Acids↗

Itard's 1828 mémoire on "Mutism caused by a lesion of the intellectual functions": a historical analysis.

OBJECTIVE: To demonstrate that Itard was one of the first clinicians to describe autism (which Itard named "intellectual mutism") and effectively separate these cases from mental retardation. Known for his attempts at rehabilitation of the Wild Boy of Aveyron, Itard wrote a largely unacknowledged paper in 1828 on the different causes of "intellectual mutism," the result of 28 years of observations at the Institut des Sourd-Muets in Paris. METHOD: Itard emphasized a complete examination of the child's faculties including attention, memory, and imitative capacity. He also described the behavior of these children as unsocialized, with poor peer relationships, superficial contact with adults in order to satisfy their own needs, and difficulties in language, especially with pronouns. RESULTS: He then described his various diagnostic and treatment approaches to determine whether the child can regain language and is educable. His description of the key features of intellectual mutism is compared to Kanner's classic description of autism. CONCLUSION: Itard rejected the overly inclusive diagnosis of "idiocy" and offered a way to distinguish children with mental retardation from those with pervasive developmental disorders, described key clinical features, and offered an assessment and treatment of these cases, all before 1830. His contribution should be recognized in textbooks of child psychiatry and developmental disorders.

Autistic Disorder↗

Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation.

A 19-year-old female patient, who had exhibited esotropia, mild cerebellar ataxia, mild mental retardation, and cerebellar atrophy on magnetic resonance images at the age of 15, developed signs of acute encephalopathy, and thereafter died of disseminated intravascular coagulation on the day of her admission. Both her mother and sister suffered from attacks of hemiplegic migraine, mild mental retardation, and cerebellar ataxia. Neuropathological examinations revealed acute changes in the widespread cerebral cortex, chronic degenerative changes in the anterior lobe of the cerebellar vermis, axonal spheroids in the Goll's nucleus, pseudo-calcinosis in the globus pallidus, and glial bundles in the cranial nerves. The most fascinating features were changes of Purkinje cells, such as cactuses (asteroid bodies, dendritic expansions), somatic sprouts, and torpedoes. These changes may be characteristic of familial hemiplegic migraine with cerebellar atrophy, as well as the other metabolic diseases, such as Menkes' kinky hair disease, infantile (Tay-Sachs type) amaurotic idiocy, organic mercury intoxication, and mitochondrial encephalopathy, of which cases often exhibit such pathological changes of Purkinje cells. Therefore, familial hemiplegic migraine may share some metabolic abnormalities with the diseases mentioned above.

Adolescent↗

Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited.

The tissues from three patients with late-infantile NCL originally described by Max Bielschowsky became available to apply modern techniques such as fluorescence microscopy, electron microscopy and immunohistochemistry. While regular tinctorial preparations of the tissues documented a neuronal storage disorder in all three patients' tissues, the accumulated material proved to be autofluorescent, showed the ultrastructure of curvilinear lipopigments, and reacted strongly with an antibody against the subunit-C of mitochondrial ATP synthase, a major component of lipopigments in NCL and also with an antibody against sphingolipid activator proteins. Thus, these modern morphological techniques demonstrated that the originally described three siblings with late-infantile "amaurotic familial idiocy" really had neuronal ceroid-lipofuscinosis of the late-infantile or Jansky-Bielschowsky type, according to current diagnostic criteria. This type of archival study may also contribute to the mosaic of medical history.

Brain↗

Peripheral nerve involvement in Batten-Spielmeyer-Vogt's disease.

Electromyography and sensory and motor nerve conduction were studied in 23 patients with Batten-Spielmeyer-Vogt's disease ("juvenile amaurotic idiocy", cerebral ceroidlipofuscinosis). A slight to moderate slowing of the sensory conduction velocity was found in the median as well as in the sural nerve, more pronounced in the distal than in the proximal segments. The findings are interpreted as evidence of impaired transmission of the peripheral nerves in Batten-Spielmeyer-Vogt's disease.

Adolescent↗

Re-establishing a dialectic of madness.

Historical evidence indicates that until the seventeenth century, a dialectical conception of madness existed; it combined the elements of loss of reason and idiocy with prophecy and clairvoyance. The onset of the Age of Reason marked the end of man's communication with madness and the accompanying dissolution of the dialectic--madness became solely a symbol of opprobrium and the insane were herded off into houses of confinement. Because mad people are returning to the streets again, it is important that we begin to explore the potential benefits that can be derived from re-establishing our communications with madness, i.e. reconstituting the dialectic. An examination of the formerly valued aspects of madness can serve as a useful point of departure.

History, 15th Century↗

The moral government of idiots: moral treatment in the work of Seguin.

This paper considers the role which moral treatment played in the treatment of idiots in the nineteenth century and particularly in the work of Edouard Seguin. It uses this discourse to identify some of the key elements of the definition of what constituted the "moral", viz. teleology, discipline and humane treatment. By way of interpretation, moral treatment and the "physiological method" of treating idiocy are presented as being based more on utility in securing the ends of social and productive subjects than on humanitarian notions of care or treatment. In additon, the paper supports the view that moral teatment allowed physicians to claim effectiveness in a field in which success had otherwise eluded them.

France↗

Unlocking the brain: attempts to improve mental function of microcephalic retarded children by "craniotomy".

"Is it sufficient glory to don a white apron and swing a carbolized knife and is therein a sufficient indication to let daylight into a deformed cranium and on top of a hopelessly defective brain, and to proclaim success because the victim consented not to die of the assault? Such rash feats of indiscriminate surgery, if continued, moreover in the presence of fourteen deaths in thirty-three cases, are stains on your hands and sins on your souls. No ocean of soap and water will cleanse those hands, no power of corrosive sublimate will disinfect the souls." These passionate words, delivered by Abraham Jacobi, the father of American pediatrics, at the International Congress in Rome in 1893, and later in the article "Non nocere" (42), epitomize the growing antagonism to the attempts by many prominent surgeons to improve the gloomy fate of severely retarded, microcephalic children by "liberating" their brains from their presumed bony chains by "linear craniotomy." This article portrays how the fallacious 19th-century concepts of the relationship between the capacity of the cranial cavity and intelligence, backed by "scientific racism" together with the changing attitude toward retarded and malformed children, generated a surgical solution for microcephalic idiocy. It describes how hopeful surgeons, neurologists, and pediatricians, encouraged by the advances in anesthesia and asepsis, lost their judgment and disregarded logic and evidence. They generated a wave of enthusiasm and hope that soared from the United States and France through the British Isles, Europe, and as far as Ceylon and Australia to end in a ripple of bitter disgrace under caustic criticism, leaving a scar on the recently budding field of neurological surgery.

Child↗

The problem of typological thinking in mental retardation.

Despite the acceptance of evolutionary theory in the biological and social sciences, typological thinking--the belief that individual differences diverge around an underlying type or essence--has persisted. The most egregious example is J. H. Langdon Down's "ethnological classification of idiocy," taken seriously in the field for almost 80 years after its origin in 1866. Past and present controversies over the definition of mental retardation have turned on an unacknowledged typological axis. Some contemporary research on Down syndrome indicates that the allure of typology is still an obstacle to the appreciation of individual differences and human dignity in the field of mental retardation.

Humans↗

Believing is seeing: visual conventions in Barr's classification of the "feeble-minded".

The eugenics era (c. 1900-1930) produced a strong desire among mental retardation professionals to recognize and control "the feeble-minded." Some eugenicists believed it was possible to classify individuals visually by learning to recognize what they believed to be observable characteristics of idiocy and imbecility. In this paper I used qualitative methods to examine the visual classification scheme developed by Martin Barr and conclude that most of this classification scheme is a social construction that was reliant on modes of presentation, such as clothing and photographic style, which had very little to do with any inherent feeble-mindedness.

Cognition↗

Matrix-assisted laser desorption ionization time-of-flight mass spectrometric analysis of glycosphingolipids including gangliosides.

Long chain base compositions of gangliosides containing mainly stearic acid could be determined without any chemical modification by matrix-assisted laser desorption ionization time-of-flight mass spectrometry with delayed ion extraction (DE MALDI-TOF MS). The analytical results for the long chain base compositions of various samples of GM1 from the brain tissues of patients with different diseases at different ages confirmed that the proportion of d20:1 (icosasphingosine) and d20 (icosa-sphinganine) of the total sphingosine bases increased quickly until adolescent or adult age and then remained constant slightly exceeding 50%; this value was evidently higher than the proportion of d20:1 and d20 of GM1 in various adult mammalian brains. A long chain base composition of GM1 from the brain tissue of a patient with infantile type of GM1-gangliosidosis at 4y2m was abnormal and so was in two sibling patients with Spielmeyer-Vogt type of juvenile amaurotic idiocy at 19y and 21y in spite of that in the latter there was no accumulation of GM1 in the brain tissue. On the other hand, a patient with adult type of GM1 gangliosidosis at 66y showed a local accumulation of GM1 in the putamen and caudate nucleus, but its long chain base composition was found to be normal. It was of interest that the white matter of Eker rat with hereditary renal carcinoma contained a large amount of plasmalocerebroside as compared with the amount of cerebroside and sphingomyelin. The individual molecular species of plasmalocerebroside were identified by DE MALDI-TOF MS.

Adolescent↗

[The Borstal of Göttingen and sterilization of adolescents in Nazi Germany].

The Nazi regime established a law in 1933 that led to approximately 360,000 involuntary sterilizations. This paper explores the application of this law in the Borstal of Göttingen, an institute for "corrective training" of male adolescents. Between the years 1934 and 1941, about 60 adolescents were legally sterilized at this institution - in most cases upon the recommendation of Walter Gerson, a psychiatrist and the institute's Director. The diagnosis was generally "congenital idiocy," a term used to classify boys who were considered to suffer from "psychopathology", antisocial behaviour or "hereditary burdens." In about a third of the cases, the adolescent or his parents attempted to prevent the sterilization, but such attempts were unsuccessful. Even after the war, victims' attempts to become rehabilitated were thwarted - both by the reinstalled Gerson and the justice of Göttingen. It was only in recent years that the financial rehabilitation of the victims was put into practice.

Adolescent↗

[Amyloidosis as a manifestation and origin of presenile and senile degeneration].

1. All essential attributes of the amyloidosis in aged persons ("senile amyloidosis") correspond to the condition which in younger individuals develops after infections, particularly following tuberculosis and lymphogranulomatosis, as so-called secondary amyloid degeneration, and also manifests many features of the so-called primary amyloidosis, not connected with infections. 2. Amyloid depositions in the brain, cardiac muscle, and in pancreatic islets (the "senile amyloidotic triad") dominate the morbid anatomic aspect. However, we know no organ or tissue which necessarily remains spared. The number of involved organs and tissues, in general, increases with the progressive aging of the patients. In those persons living long enough, amyloidosis affects every individual and probably all organs and tissues. 3. Contrary to the so-called secondary amyloidosis, in many cases of senile amyloidosis the spleen, liver and kidney remain intact. 4. In the so-called Alzheimers disease, in which both clinically and pathoanatomically a particularly destructive cerebral amyloidosis in relatively young persons prevails, just as in the common senile dementia of aged persons, the brain condition is associated with a systemic amyloid degeneration of many other organs. 5. Several cerebral and cardiac lesions due to amyloid accumulations can probably be diagnosed electrographically. Thus, through these already known morbid anatomical observations we have the promise of an essential enrichment of diagnostic perspectives. 6. In general, the etiologic manifoldness of amyloidosis presently seems to be incomparable. Infections, ionizing radiation, traumatic lesions in human pathology, the introduction of chemically definable substances, infections, and stress consequent to social burdening, proved effective in spontaneous and experimental amyloid degeneration of animals. 7. The demonstration of a tuberculous infection with the help of postmortem radiographs, as well as with the employment of histologic and microbiologic procedures to provide the evidence of acid fast bacilli in calcified remnants of pulmonary foci, proved to be eminently successful methods in the exploration of causes of senile tuberculosis and amyloidosis: Tuberculosis, after its invasion of the organism in early childhood, with its toxic and immunobiologic influences, holds it under its spell for an entire, even very long life and can be considered the most frequent cause of senile amyloidosis. 8. Chromosomal disturbances, with their hereditary manifestations, or, as in cases of mongoloid idiocy, associated with individual deformations, may present as amyloidoses. 9. Amyloid deposits in human pathology may develop by the transformation of normal structures, like cartilage, osteoid tissue, vascular elastic fibers, and also from scar hyalin and from fibrin. 10. We observed the disappearance of cerebral and cardiac amyloid accumulations producing typical defects. 11. Amyloidosis represents one of the most frequent spontaneous diseases of animals...

Aged↗

[Exceptional musical performance in early childhood catatonia].

Many years ago the author, jointly with a psychologist, described a patient who, in spite of her alleged idiocy, showed an exceptional musical capacity. However, in the meantime the author has recognized and described early childhood catatonics and, as a consequence of this new knowledge, he has to admit an error. Even according to our then findings it would have been identifiable that, as has been confirmed now by follow-up, the patient is suffering from catatonia, starting in infancy. The high musical performance, then arousing our greatest astonishment, is now explicable, for childhood schizophrenics do not develop general mental deficiency but only specific circumscribed deficits.

Achievement↗

[In memory of Hugo Kufs (1871-1955). The career of a neuropathologist].

The life and scientific career of Hugo Kufs, a pioneer in the field of neuropathology, are traced. Sixty years ago he described the first adult case of amaurotic idiocy, Kufs' disease (adult neuronal ceroid lipofuscinosis), and recognized that the condition represented a disturbance in lipid metabolism.

Germany, East↗

Morphologic approaches to the nosology of nervous system defects.

Recent technologic advances demonstrate that the morphologic approach to the nosologic delineation of nervous system disorders is often inadequate. This tenet is exemplified by the hopeless confusion which neuropathology has imparted on the problem of amaurotic familial idiocy. The delineation of nosologic entities involving the nervous system may depart from morphologic studies but requires rigid confirmation by genetic and biochemical observations.

Adult↗