Search PubMed⌕ Search

Biomedical subjects

R Eldridge

Publications and source records attributed to R Eldridge.

At least 73 records · Page 4Linked to original sources
PubMed1981

Twin study of Parkinson disease.

Zero concordance for Parkinson disease was found in the first 12 monozygotic twin pairs examined in an ongoing twin study. One co-twin (subject without Parkinson disease) had essential tremor, another had cerebral vascular disease, and a third was an alcoholic. Cigarette smoking appeared to be less frequent in the probands than in the co-twins (11.9 versus 16.1 pack-years). There was also evidence of premorbid personality differences between probands and co-twins dating back to late adolescence or early adult years. These preliminary findings suggest that genetic factors do not play a major role in the etiology of Parkinson disease and point to a prodromal onset of the disease as early as late adolescence or early adult life.

Aged↗
PubMed1980

Gilles de la Tourette syndrome: clinical and family study of 50 cases.

Fifty patients with Tourette syndrome were evaluated; data included family history, clinical characteristics, response to haloperidol, and side effects during haloperidol therapy. Sixteen patients had a family history of Tourette syndrome, and another 16 had a family history of tics. Twenty-four families had more than 2 members with Tourette syndrome or tics. There was no preponderance of families with a Jewish, Eastern European background in this sample. Thirty-four patients had obsessive-compulsive behavior. Among the 50 patients there was a high frequency of sleep disturbance, learning disability, self-destructive behavior, inappropriate sexual activity, and antisocial behavior. Family history was significantly related to the occurrence of sleep disturbance, obsessive-compulsive behavior, haloperidol response, and the frequency of side effects caused by haloperidol. The precise mode of genetic transmission in familial Tourette syndrome remains to be determined.

Female↗
PubMed1980

Multiple sclerosis in twins.

We studied 30 sets of twins in whom one or both was suspected of having multiple sclerosis (MS). In 24 pairs, a firm clinical diagnosis was made on each twin. Among these 24 pairs, 6 of 12 monozygotic twins were concordant for clinical MS, compared with 2 of 12 dizygotic twins. Of those over the age of 50, two of three monozygotic pairs were concordant, but neither of the two dizygotic twin pairs were concordant. Because ascertainment was primarily through public announcement, this series may be biased in favor of twins concordant for MS. The individuals within monozygotic concordant twin pairs exhibited wide differences in severity and age at onset of disease; the more recently affected twin tended to have a lower cerebrospinal fluid (CSF) IgG and a higher IgM level. Although the frequency of HLA-B7 and Dw2 in this twin population was high, the HLA makeup did not differ appreciably between concordant and discordant MS twins. Furthermore, the two DZ-concordant twins were HLA-nonidentical. Unexplained neurologic signs were found in three asymptomatic twins, and a high proportion of clinically normal twins had abnormalities of CSF immunoglobulins. These latter findings suggest a high incidence of subclinical MS in this population.

Adult↗
PubMed1980

Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis.

Neurofibromatosis includes the common "peripheral" form and a recently documented "central" form. We describe the central form in 130 cases from 9 kindreds personally studied and 15 reported kindreds. Central neurofibromatosis with bilateral acoustic neuroma is an autosomal dominant disorder beginning about 20 years of age, accompanied by mild skin changes. In three kindreds with central neurofibromatosis, we measured nerve growth factor in serum by radioimmunoassay and radioreceptor assay. Only the antigenic activity of nerve growth factor was increased. In contrast, in peripheral neurofibromatosis, only the functional activity of nerve growth factor has been reported increased. Central and peripheral forms of neurofibromatosis are closely related but discrete diseases which appear to have separate alterations in nerve growth factor activity.

Adolescent↗
PubMed1979

Increased levels of a nerve-growth-factor cross-reacting protein in "central" neurofibromatosis.

Nerve-growth factor (N.G.F.) from serum was assayed in 9 affected individuals from three kindreds with the trait "central neurofibromatosis". The hallmark of this disease is bilateral acoustic neuromas. Antigenic activity, as measured by radioimmunoassay, was significantly elevated. However, functional activity for N.G.F.; as measured by radioreceptor assay, was normal or low. This indicates that the central form of neurofibromatosis is characterised by high circulating N.G.F. levels which show low to normal function. These changes in N.G.F. differ from those in peripheral neurofibromatosis and suggest that the two hereditary conditions involve different alterations in N.G.F. synthesis and/or regulation.

Adolescent↗
PubMed1978

Familial multiple sclerosis: clinical, histocompatibility, and viral serological studies.

Evaluation of presumed "multiple sclerosis families" and comparison with recently reported families has led us to the following observations: (1) Seven of our original fourteen presumptive multiple sclerosis families had to be eliminated after personal clinical evaluation of family members failed to confirm the diagnosis in a second close relative. (2) No segregation of HLA type was noted between affected and unaffected individuals in our seven bona fide multiple sclerosis families, and no consistent segregation was noted in the twenty-eight families reported elsewhere. This supports other genetic evidence that there is not a single, major gene mapping in the HLA complex which predisposes to multiple sclerosis. (3) The DW2 antigen was increased in frequency among affected members of our families, and the A3 B7 haplotype was more frequent among affected members of other families reported. But unaffected members also tended to have an increased frequency of these same antigens. (4) No relationship was noted between HLA type and antimeasles antibody titer within our families.

Antibodies, Viral↗
PubMed1978

Gilles de la Tourette syndrome: clinical and genetic studies in a midwestern city.

Clinical and genetic observations of Gilles de la Tourette syndrome were carried out on members of 14 families from the Minneapolis area. An unusual number of the families were of Jewish and other Eastern European ancestry, and in all but one of these families multiple members were affected. These observations parallel our earlier findings based on 21 families from the New York City area. Together with recent evidence indicating relative instability of a specific enzyme in some patients, these observations suggest that there is a genetically determined form of Gilles de la Tourette syndrome.

Adolescent↗
PubMed1977

Content and composition of urinary glycosaminoglycans in the patients with myoclonus epilepsy with and without Lafora bodies.

Content, composition and molecular weight distribution of the urinary glycosaminoglycans (GAG) were determined in five patients with progressive myoclonus epilepsy (PME). In one patient (Family B) this syndrome was associated with cerebral Lafora bodies and in four siblings of Family A, no Lafora bodies were present in brain biopsy. Only one of the five patients had a moderate increase of urinary GAG excretion as expressed by 24-h output or creatinine. The heparan sulfate component of the GAG was moderately increased in two other patients. The molecular weight distribution of the urinary GAG was normal. The results do not support the contention that urinary GAG excretion is abnormal in PME. Among nine lysosomal enzymes in leucocytes, only the activity of alpha-mannosidase was increased 3-fold in the four siblings.

Adolescent↗
PubMed1977

Catecholamine metabolism in Gilles de la Tourette's syndrome.

Abnormal central catecholamine neurotransmission has been suggested in Gilles de la Tourette's syndrome. The authors evaluated the sympathetic nervous system in both the basal state and in its responsivity to postural and exercise stress. Plasma norepinephrine and the activities of its synthetic and degradative enzymes were not different in 33 Tourette patients, a control group of unaffected relatives, and another control group of unrelated healthy volunteers. This finding suggests that these patients have neither a generalized dysfunction of norepinephrine metabolism nor a defect in the central control of sympathetic function.

Adolescent↗
PubMed1977

Gilles de la Tourette's syndrome: clinical, genetic, psychologic, and biochemical aspects in 21 selected families.

Eighty-one patients and relatives with Tourette's syndrome, members of 21 selected families, participated in a 1-day clinic. In 12 of the 13 Jewish families and six of the eight non-Jewish families, there were multiple members with motor and vocal tics by observation or history. Males predominated among those with persistent symptoms, but among those with spontaneous clearing, females predominated. Twelve propositi had troublesome sexual and aggressive impulses, differing only quantitatively from normal. No evidence of abnormality was found in plasma dopamine beta hydroxylase, or norepinephrine levels.

Adolescent↗