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Biomedical subjects

R Eldridge

Publications and source records attributed to R Eldridge.

At least 55 records · Page 3Linked to original sources
PubMed1986

Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials.

The pteridine cofactor of tyrosine and tryptophan hydroxylases, tetrahydrobiopterin (BH4), is concentrated in the striatum and other sites of brain monoamine synthesis and is a regulatory factor in the rate-limiting step of catecholamine synthesis. CSF content was decreased in eight patients with dystonic disorders (mean, 13.0 +/- 0.8 pmol/ml CSF compared with 20.6 +/- 1.4 in age-matched normals). We gave several trials of synthetic BH4 intravenously to 10 dystonic patients with benefit for 2 subjects with diurnally fluctuating dystonia, 1 with hemidystonia and parkinsonism, and 1 with generalized torsion dystonia. The findings of biopterin abnormality and the observed clinical improvements may point to a role for the cofactor in the pathogenesis and, possibly, the treatment of some forms of primary dystonia.

Adult↗
PubMed1986

Gilles de la Tourette syndrome: etiologic considerations.

The prevalence of Gilles de la Tourette syndrome is 28/100,000 in subjects of among the school age population. Familial cases have been described, although it is not an hereditary disease. This indicates that non genetic factors are critical. The fact that Gilles de la Tourette syndrome is frequently associated with migraine, sleep disturbances, attentional or compulsive deficits, does not orient towards a specific cause. An environmental factor has never been demonstrated. Epidemiological studies should be developed in the future, and more systematic anatomical and biochemical researches should be undertaken.

Animals↗
PubMed1984

Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

We studied a large kindred with a chronic progressive neurologic disorder affecting at least 10 men and 11 women in four generations in a pattern compatible with autosomal dominant inheritance. In 20 of the affected subjects, evaluated before the availability of computerized tomography and without regard to family history, the diagnosis was multiple sclerosis. Symptoms of the neurologic disorder begin in the fourth and fifth decades and include cerebellar, pyramidal, and autonomic abnormalities. The autonomic symptoms, which involve bowel and bladder regulation and orthostatic hypotension, may be the earliest changes but are frequently disregarded. Survival for 20 years after onset is common. The CT scan is striking and shows a symmetrical decrease in white-matter density, beginning in the frontal lobes but extending to all of the centrum ovale and the cerebellar white matter. Limited pathological observation reveals gross white-matter degeneration with microscopic vacuolation, preservation of U fibers and cortical structures, and no inflammatory changes or reactive gliosis. Because of its hereditary basis, the disorder should be susceptible to genetic definition and ultimately to treatment or prevention.

Adult↗
PubMed1984

Dystonia in 61-year-old identical twins: observations over 45 years.

We examined 61-year-old identical twin women of Jewish extraction with a probable autosomal recessive form of torsion dystonia. The dystonia in each was relatively mild and discovered only because a young relative developed dystonia. The twins were said to be discordant for dystonia, but personal evaluation led to the diagnosis of dystonia in both. Their slow course, with prolonged spontaneous remission in one twin, is in contrast to that described in most published reports. Although similar in mode of onset and initial course, the twins were dissimilar in age at onset, influence of pregnancy, diurnal variation in symptoms, need for medication, later course, and degree of disability at age 61. Normal plasma levels of norepinephrine and dopamine-beta-hydroxylase are consistent with autosomal recessive hereditary torsion dystonia. The importance of personal evaluation of key family members in establishing the correct genetic basis for a heterogeneous group of disorders, such as the hereditary dystonias, is stressed.

Chromosome Aberrations↗
PubMed1984

Molecular genetics, basal ganglia disorders, and the clinical neurologist.

The emphasis of this article is on gene mapping, clinical neurogenetics, genetic factors in common disease, and classification of the hereditary disorders of the basal ganglia. This was influenced by the recent assignment for the Huntington's disease gene to chromosomes 4 by Gusella, Wexler, and Conneally and the fact that several comprehensive reviews of the genetics of basal ganglial disease have recently been published.

Basal Ganglia Diseases↗
PubMed1983

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin.

A survey of 15 families in the USA with Baltic myoclonus epilepsy showed that the 27 individuals who were affected had the following clinical picture from about the age of 10: photosensitive, occasionally violent, myoclonus, usually worse upon waking; generalised tonic-clonic seizures, sometimes associated with absence attacks; and light-sensitive, generally synchronous, spike-and-wave discharges on EEG that preceded clinical manifestations. Necropsy revealed marked loss of Purkinje cells of the cerebellum, but no inclusion bodies. Since the disease was confined to sibs and consanguinity was present in two families, autosomal recessive inheritance is probable. The disease progressed more rapidly in these families than it did in the early cases, seen in the Baltic region. This difference could be due to a toxic effect of phenytoin because phenytoin given alone or with other antiepileptic drugs was associated with progressive motor and intellectual deterioration, marked ataxia, and even death. Treatment with valproic acid, and the concomitant reduction or elimination of phenytoin, has been associated with marked improvement in at least 8 patients. Baltic myoclonus epilepsy must be distinguished from Lafora body disease, which is invariably fatal and discernible on clinical grounds.

Adolescent↗
PubMed1983

A family with histologically confirmed Alzheimer's disease.

A Canadian family comprising 51 members affected with Alzheimer's disease was evaluated clinically, histologically, and genetically. Ancestors were traced through eight generations, and 51 members were examined at the National Institute of Mental Health, Bethesda, Md. The pedigree is consistent with autosomal dominant inheritance. The effect of interrelatedness among some parents of affected individuals is unknown. In contrast to other studies, there was not an increased incidence of Down's syndrome, hematologic malignancy, or preponderance of affected females.

Alzheimer Disease↗
PubMed1983

Parkinson's disease in 65 pairs of twins and in a set of quadruplets.

Among 43 monozygotic (MZ) and 19 dizygotic (DZ) pairs in which an index case had definite Parkinson's disease (PD), only one MZ pair was definitely concordant for PD. When pairs with questionable clinical features were included, 4 of 48 MZ and 1 of 19 DZ pairs were concordant. The frequency of PD in MZ cotwins of index cases with PD was similar to that expected in an unrelated control group matched for age and sex. Although we were unable to identify a single environmental agent, we conclude that the major factors in the etiology of PD are nongenetic.

Female↗
PubMed1982

Possible risk factors in multiple sclerosis as found in a national twin study.

Fifty-one twin pairs, one or both members of each with multiple sclerosis (MS), were analyzed for extraneous events occurring prior to onset. Six patient groupings allowed comparison of events with and without the genetic factor. Comparison of monozygotic, discordant (one involved), and dizygotic discordant twins showed a difference. The affected members of the monozygotic pairs encountered prior to onset more birth anoxia, unusual infantile and childhood infections, major operations, and childbirth than did their unaffected twins, a difference not found when comparing dizygotic twins. The difference was most evident in the monozygotic discordant twins interviewed 30 years after onset of MS. If concordant (both involved) twins are analyzed by early vs late age of onset, these events occur at an older age in the late- and at younger age in the early-onset patients, suggesting that they may determine the age of onset of symptoms; they are suspected to be important in the causation of MS in genetically susceptible individuals, although the mechanism of their action is unknown.

Diseases in Twins↗
PubMed1982

Torsion dystonia.

Explore the source record for details and available documents.

Adolescent↗