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Biomedical subjects

E Andermann

Publications and source records attributed to E Andermann.

At least 145 records · Page 8Linked to original sources
PubMed1985

Folic acid blinded trial in identical twins with fragile X syndrome.

Monozygous twin 14-year-old mentally retarded boys with the fragile X syndrome were treated either with 10 mg folic acid by mouth daily or with a placebo for three test periods of 3-month duration each in a blind study. For each twin, tests of cognitive functioning, reading, spelling, and math skills, and linguistic and perceptual skills were compared. Although there was considerable variation in performance on these tests during the two baseline periods, there were no observable beneficial effects of therapy. The routine use of folic acid in patients with established mental retardation and the fragile X syndrome is not indicated.

Adolescent↗
PubMed1984

Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom.

Child↗
PubMed1984

The hemi 3 syndrome. Hemihypertrophy, hemihypaesthesia, hemiareflexia and scoliosis.

Three unrelated girls presented with a developmental syndrome of hypertrophy involving half or a quadrant of the body and not involving the face. The appearance was one of inappropriately large size of the affected side rather than contralateral atrophy. On the larger side, there was hypertrophy of muscle and increased power as well as an increase in diameter, but not in length, of long bones. There was areflexia and decreased pain and temperature sensation on that side. The patients also had progressive scoliosis and foot deformities on the enlarged side. One patient had a lumbar myelomeningocoele , and all 3 had a family history of neural tube closure defects. EMG, nerve conduction studies, EEG, skull x-rays, PEG, and cerebral CT scans were normal. Myelography did not demonstrate an enlarged cord, and in particular there was no evidence for syringomyelia. Chromosome studies revealed normal karyotypes. Sex chromatin was female on both sides in one patient. A defect of the dorsal lip of the neural tube or the neural crest is postulated to explain the abnormality. The association with closure defect in one patient and a positive family history of other neural tube defects in all 3 patients suggests that the developmental defect occurs at an early embryonic stage. Recognition of the syndrome is important. It can be distinguished clinically from hemiatrophy of cerebral origin. The neurological abnormalities are static, but the scoliosis is progressive and requires correction. The condition is associated with an increased prevalence of neural tube closure defects in the family, and forms part of a spectrum of genetically and embryologically related CNS malformations with multifactorial inheritance. Probands, parents, siblings and parents' siblings should be counselled that the risks of spina bifida and anencephaly in their offspring are the same as those in relatives of probands with classical neural tube defects, and should be offered prenatal diagnosis.

Adult↗
PubMed1982

Electrophysiological investigation of the auditory system in Friedreich's ataxia.

Auditory brainstem responses (ABRs) and cortical auditory evoked responses (AERs) were studied in a series of 16 Friedreich's ataxia patients who varied in age, degree of clinical involvement and duration of the disorder. The ABRs were markedly abnormal in all but the youngest patient, and the abnormalities reflected the severity and duration of the disease. The latencies of the AERs were significantly longer in the Friedreich's ataxia patients compared to normal controls, suggesting cortical as well as peripheral involvement of the auditory system. These data are discussed in terms of the neuropathology of the disorder and the similarities with the other sensory systems in Friedreich's ataxia patients.

Adolescent↗
PubMed1982

Pituitary responses to a neuroactive tripeptide (TRH) in Friedreich's ataxia families.

Oral glucose tolerance, thyroid function tests, as well as thyrotropin, prolactin and growth hormone release after administration of thyrotropin releasing hormone, were evaluated in patients with Friedreich's ataxia and unaffected family members. Impaired glucose tolerance was found in the majority of family members, affected or not. Thyroid hormone levels and PRL and TSH responses to TRH, were similar in all and normal. However, GH responses to TRH were abnormal in half of the patients, but in none of the unaffected family members. Paradoxical responses to neuropeptides may characterize some Friedreich's ataxia patients, and may predict the possibility of therapeutic maneuvers with such peptides in these patients.

Adolescent↗
PubMed1982

Increased plasma catecholamines in patients with Friedreich's ataxia.

We studied free plasma catecholamines in 23 patients with Friedreich's ataxia, having a mean age of 22 +/- 9.6 (SD) years. Conjugated catecholamines were also studied in 10 patients. Mean plasma norepinephrine and epinephrine were significantly higher than controls both in the supine and standing positions. In total 15 out of 23 patients (65%) had increase free and/or conjugated plasma catecholamines. The increased in plasma catecholamines was more marked in patients with severe neuromotor impairment. Among the patients with left ventricular concentric hypertrophy (wall thickness greater than 12 mm), only 3 had no demonstrable sympathetic hyperfunction. Since the high local concentrations of norepinephrine at the site of release from sympathetic nerve terminals may serve as a trigger for the hypertrophic response of the myocardial cell, it is suggested that early pharmacological intervention could prevent or limit the cardiomyopathic process or its clinical consequences.

Adolescent↗
PubMed1980

An autosomal dominant syndrome of hemiplegic migraine, nystagmus, and tremor.

A mother and son suffer from hemiplegic migraine with onset in childhood. Both have nystagmus which has not changed for many years, but the date of onset is uncertain. They have an asymmetrical tremor, clinically indistinguishable from essential tremor. Neuroophthalmological examination revealed inability to produce smooth pursuit, gaze-paretic nystagmus, rebound nystagmus, failure of fixation suppression of the vestibuloocular reflex both horizontally and vertically, and low gain of the optokinetic system. These abnormalities, confirmed by electrooculography, are commonly seen in disease of the cerebellum and brainstem. Treatment with propranolol and pizotyline lessened the number of episodes of hemiplegia and improved the tremor. Hemiplegic migraine has been reported in association with nystagmus, retinal degeneration, deafness, and ataxia in varying combinations in three other families with autosomal dominant inheritance. These associated neurological manifestations likely represent system degenerations rather than the effect of repeated ischemia imputable to the migraine itself. The syndrome of hemiplegic migraine, tremor, and ocular smooth pursuit system disorder seen in this family appears to be inherited as a single autosomal dominant trait, although more than one autosomal dominant gene may be involved.

Adolescent↗
PubMed1980

Hypertrophic cardiomyopathy in Friedreich's ataxia: symmetric or asymmetric?

We evaluated 15 patients with Friedreich's ataxia (FA) to define the incidence of myocardial involvement and the type of cardiomyopathy observed. All patients with FA had either ECG, vectocardiographic or echocardiographic abnormalities, suggesting some degree of myocardial involvement. In contrast to reports indicating that asymmetric septal hypertrophy (ASH), often obstructive, is associated with FA, symmetric, concentric hypertrophic cardiomyopathy (SCH) was the predominant abnormality (sixty-seven percent of patients). Echocardiograms should be performed periodically in all FA patients since this technique allows the detection of cardiac hypertrophy.

Adolescent↗
PubMed1980

Friedreich's ataxia and oral glucose tolerance: I. The effect of ingested glucose on serum glucose and insulin values in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene.

Glucose tolerance and insulin release were evaluated in 16 families with Friedrich's ataxia. Impaired glucose tolerance differed in incidence according to the method of evaluation, but was increased in number in parents and siblings of Friedreich's cases. Insulin output was not quantitatively different from normal, although the insulin peak was often delayed. This finding, in association with impaired glucose tolerance, suggest a defect in glucose entry into cells.

Adolescent↗
PubMed1980

Friedreich's ataxia and oral glucose tolerance: II. The effect of ingested glucose on serum growth hormone in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene.

Homozygotes, obligatory heterozygotes and potential carriers of the Friedreich's Ataxia gene were tested with an oral glucose tolerance in order to assess a. the prevalence of abnormalities in glucose handling, b. the secretory pattern of two "diabetogenic" hormones, growth hormones and prolactin and c. to evaluate the possibility for detection of an abnormal trend in these hormones to be used as a genetic marker. Despite the high prevalence of glucose abnormalities horizontally and vertically in these families, the basal output and responses of these metabolic hormones to a glucose challenge were appropriate and thus not characteristic of any of the above groups.

Adolescent↗
PubMed1980

Startle disease or hyperekplexia: further delineation of the syndrome.

Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions. Episodes of shaking of the limbs lasting for several minutes and resembling generalized clonus or repetitive myoclonus occur. These are most often nocturnal and are also unaccompanied by loss of consciousness. the patients are hyperreflexic and show an increased incidence of associated neurological and electroencephalographic abnormalities. The minor form of startle disease is only manifested by excessive startle and this is inconstant. In infancy it is brought out by febrile illness and in adult life by emotional stress. Gastaut and Villeneuve postulated the existence of a sporadic form of hyperekplexia different from the disorder described by Suhren et al. Review of their report and comparison with the cases of Suhren et al, and our own patients leads us to believe that the sporadic and familial forms of startle disease are the same. The disorder is rare, probably misdiagnosed initially as spastic quadriplegia, and later as epilepsy. Clonazepam appears to be the treatment of choice and its effect is sustained.

Adolescent↗
PubMed1980

Marriage and fertility in epileptic patients.

Marital status and fertility were compared for 100 epileptic females and 100 epileptic males. The marriage rate among male patients was 59% of expected (p less than 0.001) as compared to 83% for female patients (p less than 0.10). Patients with early onset of seizures, particularly males, had lower marriage rates than expected, unlike patients with onset after age 20. Married female patients had only 69% of the expected number of live-born children (p less than 0.001) as compared to 100% for married male patients. Marriage and fertility rates of epileptic females have improved in the last generation, while those of epileptic males have remained constant.

Adult↗
PubMed1979

Oculomotor abnormalities in Friedreich's ataxia.

A clinical neuro-ophthalmological and electro-oculographic study was made on fourteen patients with Friedreich's ataxia. None had evidence of optic nerve dysfunction. No patient complained of oscillopsia although all had ocular motor deficits of varying degrees, which appeared to be related to the severity of the general manifestations of the disease. The defects comprised square wave jerks, jerky pursuit with inability to maintain eccentric gaze resulting in gaze paretic nystagmus and rebound nystagmus. There was failure to suppress by fixation the vestibulo-ocular reflex. The slow phase velocity of caloric nystagmus was always of reduced velocity. There was inability to augment the slow phase velocity of optokinetic nystagmus with increasing stimulus velocity. Abnormalities of the saccadic system were manifest particularly as hypermetria. These signs in combination are suggestive of disease involving the cerebellar flocculus and vermis or their brain stem connections. No abnormalities were found in 17 parents or siblings.

Adolescent↗
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↗
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↗