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Biomedical subjects

F Andermann

Publications and source records attributed to F Andermann.

At least 325 records · Page 18Linked to original sources
PubMed1977

Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease.

Cytosomes filled with intensely fluorescent material in the form of curvilinear bodies were isolated by density gradient centrifugation followed by pronase digestion from the cerebral cortex of a child who had died at age 7 from the late infantile form of Batten disease. Forty-three percent of the dry weight of the storage material was extracted by a mixture of chloroform and methanol, leaving a waterinsoluble amorphous fluorescent residue. Infrared spectroscopy, proton magnetic resonance spectrscopy, and mass spectrometry of this residue strongly suggested the presence of retinoyl polyenes linked to a small peptide. Base hydrolysis and methanolysis yielded retinoic acid and methyl retinoate, respectively. Ozonolysis yielded a product derived from the substituted cyclohexenyl ring of vitamin A. The results indicate that the fluorescent component of the neuronal storage material is a retinoyl complex and is not derived from peroxidized polyunsatured fatty acids as previously thought.

Brain↗
PubMed1977

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is great diversity as to age and type of presentation. This is paralleled by diversity in the deposits. To the third group belongs the infantile form of the disease, as well as rare patients with later onset. Pathological diagnosis can be reliably, conveniently and consistently made from biopsy of skin by electronmicroscopy, and usually from biopsy of skeletal muscle as well.

Age Factors↗
PubMed1977

Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease.

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.

Adolescent↗
PubMed1977

Facial asymmetry in patients with temporal lobe epilepsy. A clinical sign useful in the lateralization of temporal epileptogenic foci.

While a clinical history is frequently sufficient for a localizing diagnosis of temporal lobe epilepsy, lateralization of the epileptogenic abnormality often is impossible on clinical grounds alone. Since we have noted facial asymmetry in such patients, 50 individuals with temporal lobe epilepsy were studied. In patients with unilateral foci, we found contralateral lower facial weakness of mild to severe degree in 73 percent while 13 percent had ipsilateral weakness, and in 13 percent the face was symmetrical. The facial weakness usually was more striking on emotional movement. In the group of patients with bitemporal independent discharges, 61 percent had some asymmetry, often facial weakness on the side opposite the major focus. Of 25 control individuals, only one third had a facial asymmetry and this was slight. Facial asymmetry in temporal lobe epilepsy is a useful though not an absolute clinical lateralizing sign. It is a factor to be considered in addition to other clinical, radiologic, neuropsychologic, and electroencephalographic findings in the evaluation of patients with temporal lobe seizures.

Epilepsy, Temporal Lobe↗
PubMed1976

Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.

Four patients with diabetes mellitus, optic atrophy, and high-frequency neurosensory hearing loss, two of whom also had diabetes insipidus, are described. The frequency of this syndrome among patients with juvenile diabetes appears to be between 1/148 and 1/175. Because of the progressive nature of the disabilities and the autosomal recessive mode of inheritance, careful monitoring of all juvenile diabetic patients for other signs of the syndrome is warranted.

Adolescent↗
PubMed1976

Genetic and family studies in Friedreich's ataxia.

This study consists of two parts: 1. A detailed genetic analysis of 35 sibships in which 58 individuals were affected with Friedreich's ataxia; and 2. Clinical and laboratory examinations of parents and siblings, in an attempt at carrier detection and diagnosis of the pre-clinical state. The increased parental consanguinity, the lack of affected individuals in other generations, and the lack of significance of extrinsic etiological variables, all suggested an autosomal recessive mode of inheritance, and this was confirmed by formal genetic analyses, employing several different methods. Associated abnormalities in our series of 58 patients included cardiomyopathy (51.7%), diabetes mellitus (19.0%), optic atrophy (5.2%), nerve deafness (5.2%) and congenital malformations (6.9%). The incidence of diabetes mellitus, congenital malformations, and epilepsy and/or febrile convulsions was elevated in first degree relatives of patients with Friedreich's ataxia.

Adolescent↗
PubMed1976

Electroencephalographic findings in Friedreich's ataxia.

Electroencephalographic tracings of 50 patients who presented the classical features of Friedreich's ataxia were reviewed. Mild nonspecific abnormalities were found in 33% and consisted of: a) Abnormal slow or irregular background rhythms in 15 patients (30%). b) Intermittent paroxysmal rhythms, considered to be projected from diencephalic or upper midbrain structures, in 4 patients (8%). c) Unilaterally absent driving responses in 2 affected siblings (4%). There was no response to intermittent photic stimulation in 60% of the patients. This finding is not considered a definite abnormality, and its significance remains unclear. Four patients (8%) had epileptic seizures, but of these only two had interictal epileptic abnormalities. There was no correlation between the duration and severity of the disease and the presence of electroencephalographic abnormalities. Friedreich's ataxia is mainly a spinal disorder. Involvement of supraspinal and in particular brain stem or diencephalic structures may be more extensive in those patients who show electrographic abnormalities. This would require confirmation with comparative data based on pathological observations. Impaired function of brain stem inhibitory mechanism may be responsible for the slightly raised incidence of seizures in patients with Friedreich's ataxia and other cerebellar degenerations.

Adolescent↗
PubMed1976

SELF-INDUCED TELEVISION EPILEPSY. A study of 2 patients.

A unique method of deliberate self-induction of epileptic seizures, using the TV screen was encountered in two young women. Both suffered from highly photosensitive primary generalized corticoreticular orcentrencephalic epilepsy. Self-precipitation developed in periods of their life when spontaneous attacks no longer occurred. The seizures consisted of absence or generalized tonic clonic attacks. (The latter are almost never encountered in "hand waving", the most common form of self-induction reported in the literature.) The seizures were almost always induced in situations of guilt and/or frustation. They were followed by a feeling of tension relief rather than pleasure. Both patients were reluctant to discuss the circumstances under which self-induction occurred, and had difficulty in accepting psychotherapy or complying with antiepileptic medication. The similarity between the two young women was striking, and suggests that patients with this and other forms of self-induced epilepsy should be more fully studied from a psychiatric point of view.

Adult↗
PubMed1976

Shuddering attacks in children: an early clinical manifestation of essential tremor.

Six infants and children presenting with shuddering attacks had evidence and a family history of essential tremor. Although this association had not been recognized, the shuddering spells caused considerable concern and led to a wide range of diagnoses. The attacks start in infancy or early childhood, are brief, often associated with some posturing, and may be very frequent. They are benign and tend to become less frequent or to remit during the latter part of the first decade. The recognition of this syndrome should avoid unnecessary investigation and concern. The pathophysiology of shuddering attacks seems to represent an expression of the mechanism of essential tremor in the immature brain. The ultimate nature of these attacks will undoubtedly be clarified when a neurochemical basis for essential tremor is found.

Adult↗
PubMed1975

Stripes, complex cells and seizures. An attempt to determine the locus and nature of the trigger mechanism in pattern-sensitive epilepsy.

The study concerns an epileptic patient whose absence attacks were contingent on the viewing of striped patterns. A series of experiments demonstrated first that seizures were not due to the intermittent stimulation of retinal cells produced as physiological nystagmus vibrated the image of the pattern, and secondly that seizures were triggered at the cortical level, probably by the firing of complex cells. Spectacles which occluded pattern vision in one eye were highly effective in reducing seizure incidence.

Adolescent↗
PubMed1975

Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis.

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.

Agenesis of Corpus Callosum↗
PubMed1974

On the relation of dystonic movements to serum thyroxine levels.

A patient with psychomotor retardation secondary to delayed treatment of cretinism developed abnormal dystonic movements in the absence of other signs of toxicity during levothyroxine replacement therapy at a serum thyroxine level of 16 mug./100 ml. The dystonic movements disappeared when the serum thyroxine level fell. The abnormal movements were considered to be related to high thyroxine levels in this patient with pre-existing central nervous system dysfunction.

Child, Preschool↗