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Biomedical subjects

T D Bird

Publications and source records attributed to T D Bird.

At least 163 records · Page 9Linked to original sources
PubMed1984

Essential myoclonus in a kindred with familial malignant melanoma.

We studied a kindred in which three members had essential myoclonus and seven members had malignant melanoma. Two of the persons with myoclonus had melanoma and the third carried the genetic predisposition for melanoma. The coexistence of the two disorders in these patients could represent coincidence, linkage between the two dominant genes, or the pleiotropic expression of a single gene affecting neuroectodermal derivatives.

Aged↗
PubMed1983

Alzheimer's disease: choline acetyltransferase activity in brain tissue from clinical and pathological subgroups.

Choline acetyltransferase activity was measured postmortem in five brain regions to determine if such activity provided biochemical support for clinical and pathological subgrouping of Alzheimer's disease. Seven patients with Alzheimer's disease were divided into groups based on age at onset, severity of neuropathological changes, history of myoclonus, family history of dementia, cerebellar amyloid plaques, and congophilic angiopathy. Thirty-two age-matched normal control subjects and 17 neurological control patients with Huntington's disease were also studied. Patients with early-onset and late-onset Alzheimer's disease did not differ in the clinical duration of their disease. Choline acetyltransferase activity was significantly lower in patients with early-onset Alzheimer's disease than in age-matched control subjects in frontal cortex, temporal cortex, hippocampus, and cerebellum. In contrast, choline acetyltransferase activity in patients with late-onset Alzheimer's disease was significantly lower than in age-matched control subjects only in hippocampus. There was a tendency for choline acetyltransferase activity to be lower in cortex from patients with early-onset Alzheimer's disease compared with cortex from the late-onset group, and this difference was significant in temporal cortex. Choline acetyltransferase activity was also measured in the substantia innominata from 9 patients with Alzheimer's disease and 5 age-matched control subjects. Subjects with early-onset Alzheimer's disease had significantly lower choline acetyltransferase activity in substantia innominata than did control subjects. Patients with Alzheimer's disease and a history of myoclonus had significantly lower choline acetyltransferase activity than did affected patients without myoclonus. Multivariate regression analysis showed myoclonus to be the single best predictor of low brain choline acetyltransferase activity. These results provide further evidence for clinical, pathological, and biochemical heterogeneity in Alzheimer's disease.

Adult↗
PubMed1983

Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).

A genetic linkage study performed on a large family with autosomal dominant Charcot-Marie-Tooth neuropathy (HMSN type I) showed affected family members to have slow motor nerve conduction velocities, hypoactive tendon reflexes, and distal muscle weakness and atrophy. Results excluded close linkage of the neuropathy in this family to the Duffy blood group locus on chromosome 1. Previous studies in other families have shown positive linkage of HMSN type I to the Duffy locus. The present results provide support for the concept of genetic heterogeneity in HMSN type I. Comparison of this new family with the previous families showing linkage to Duffy reveals that the hereditary neuropathy not linked to the Duffy locus may have less severe slowing of motor nerve conduction velocities and less prominent onion bulb change evident on sural nerve biopsy.

Adolescent↗
PubMed1983

Cognitive and personality function in myotonic muscular dystrophy.

Twenty-nine patients with myotonic dystrophy from 14 families were tested with the Wechsler and Shipley measures of cognitive function. Forty-one per cent of the subjects had little or no physical handicap. Approximately one-third had low Wechsler scores, whereas 7% had relatively high scores. There was a trend for affected females to have poorer cognitive function than males. Limited cognitive ability correlated with maternal inheritance of the gene and severe physical handicap, but there were individual exceptions. Strongest cognitive abilities were verbal and informational, whereas the weakest were immediate recall, abstraction and spatial manipulation and orientation. There was no evidence of intellectual decline with time. Signs of cerebral atrophy on CT scans were uncommon, occurring for certain in only one of 19 subjects. Personality profiles were also constructed for 25 myotonic subjects using interview and MMPI techniques. Forty-four per cent of the subjects had unremarkable personality profiles, 24% had mild personality difficulties and 32% had prominent personality abnormalities. Serious personality difficulty was most common in patients with low cognitive ability and advanced physical handicap. There was no "typical" personality pattern representative of the entire group. It is likely that many personality problems were the result of individuals with limited resources attempting to cope with their physically deforming and debilitating neuromuscular disorder.

Adolescent↗
PubMed1983

Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia.

Progressive presenile dementia with lipomembranous polycystic osteodysplasia was first described by Jarvi and Hakola in an isolated region of Finland. We report the occurrence of this disorder in 4 of 10 siblings in an American family of Czechoslovakian ancestry. Characteristics of the disease include multiple bone cysts with pathologic fractures, progressive dementia with seizures and abnormal EEG, calcification of basal ganglia, and death in the fourth to six decades. Autosomal-recessive inheritance is likely. Electronmicroscopy of fat cells reveals peculiar membrane convolutions. Limited neuropathologic material has shown gliosis and demyelination of white matter, senile plaques, and neurofibrillary tangles. Leukemia and a disorder of intestinal motility may be associated findings. Prevalence of the disorder is unknown, partly because it may be confused with Alzheimer disease and fibrous dysplasia of bone. Radiographs of hands and feet should be part of the evaluation of patients with unexplained presenile dementia.

Adipose Tissue↗
PubMed1982

Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

A 43-year-old man presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. Adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Ultrastructural patterns in cytolysosomes suggested accumulation of neutral fat and phospholipids. Liver content of bis-(monoacylglycerol) phosphate was increased, probably because the number of lysosomes had increased. Sphingomyelinase activity was normal in cultured skin fibroblasts. Juvenile and adult dystonic lipidosis form a clinically, histologically, and biochemically distinct neurovisceral storage disease that differs from Niemann-Pick disease.

Adult↗
PubMed1982

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

A linkage study was performed on three families with classic Charcot-Marie-Tooth (CMT) hereditary neuropathy with clinical manifestations of autosomal dominant inheritance, distal muscle weakness and atrophy, hyporeflexia, and slow motor nerve conduction velocities. Two families comprising 3 and 4 generations and a total of 23 affected persons were informative for the Duffy locus known to be on the long arm of chromosome 1. The maximum total lod score was 2.297 at recombination fraction theta = .1. The third family was informative for PGM1 (on the short arm of chromosome 1). There was no evidence for linkage of CMT to PGM1 in this third family, but only values of theta less than .03 could be excluded. There was no evidence for linkage of CMT to seven other informative markers in these families. We conclude that the gene controlling the occurrence of dominant CMT may be approximately 10 centimorgans from the Duffy locus on the long arm of chromosome 1. Additional studies are required to confirm these findings.

Blood Group Antigens↗
PubMed1981

Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy.

Pattern reversal visual evoked potentials (PRVEP) were studied in 25 patients from 17 separate families with Charcot-Marie-Tooth (CMT) syndrome. Twenty patients had classic CMT with depressed tendon reflexes, slow motor nerve conduction velocities, and autosomal dominant inheritance. Four patients demonstrated typical findings of CMT, but there was no documented family history. One patient had the axonal form of hereditary motor sensory neuropathy. Abnormally delayed latencies of the PRVEP were found in four patients (16% of the total), including the only patient with clinical optic atrophy. There was no consistent correlation, of PRVEP with severity of disease. These results confirm earlier clinical reports of occasional optic nerve involvement in CMT and represent additional evidence that central pathways may be involved in this primarily peripheral nervous system disorder.

Adolescent↗
PubMed1981

Genetic influences in the epilepsies. Review of the literature with practical implications.

We review hereditary influences in the epilepsies from the perspective of medical genetics. The recurrence risk for epilepsy in close relatives may vary from 2% to 5% up to 50% depending on the etiology of the seizure disorder in the proband. We emphasize the identification of specific disorders with single-gene inheritance that will lead to useful conclusions regarding treatment, prognosis, and family counseling. Also discussed are chromosomal aberrations, polygenic inheritance, gene-environment interactions, animal models of epilepsy, and the pharmacogenetics of anticonvulsants.

Animals↗
PubMed1981

Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations.

Pattern-reversal visual evoked potentials (PRVEP) were evaluated in 24 patients from 18 separate families with various forms of hereditary ataxia and spinal degeneration. Abnormally delayed latencies were found in 3 of 5 patients with classic Friedreich's ataxia, 1 patient with dominant spastic paraparesis, and 1 patient with recessive dentatorubrospinal degeneration. Fifteen other patients with several different types of dominant and recessive hereditary ataxias had normal PRVEP latencies, including 1 patient with bilateral optic atrophy. Testing of PRVEP will be useful in the clinical delineation of the genetic ataxias and spinal degenerations, and, when interpreted with caution, should be an additional variable evaluated in the differentiation of these disorders from multiple sclerosis.

Adolescent↗
PubMed1981

Genetic control of developmental patterns of cerebral enzyme activities: further differences between C3H and ICR strains of mice.

We have investigated developmental changes in activity for five enzymes associated with different cerebral metabolic systems in two separate strains of mice. The enzymes studied were acid beta-galactosidase, arylsulfatase A, cerebroside beta-galactosidase, cerebroside sulfotransferase, and glutamate decarboxylase. The two strains of mice were C3H/SWV and ICR/SWV. We confirm the experiments of Meisler, Paigen, and colleagues showing higher acid beta-galactosidase activity throughout development in C3H mice. In addition we have demonstrated higher arylsulfatase A activity throughout development in C3H mice. The shape of the developmental curve for arylsulfatase A activity in brain in the two strains was similar. There were no differences in developmental changes of activity between the two strains for the other three enzymes studied.

Animals↗
PubMed1981

Myotonic dystrophy associated with Down syndrome (trisomy 21).

A 27-year-old man had both autosomal dominant myotonic muscular dystrophy and classic trisomy 21 Down syndrome. Down syndrome had been recognized many years before the myotonic dystrophy. Although he had the typical stigmata of Down syndrome, he functioned socially with an I.Q. of 50. There was no evidence that either of the two diseases adversely affected the manifestations of the other. Although the occurrence of these two disorders in the same patient could be coincidental, this is at least the fifth report of myotonic dystrophy associated with chromosomal aneuploidy; the previous foud patients all had Klinefelter syndrome (47, XXY).

Adult↗
PubMed1980

Developmental dissociation of myelin synthesis and "myelin-associated" enzyme activities in the shiverer mouse.

Developmental changes in three enzymes associated with myelin lipids were studied in the shiverer mouse, a murine mutant showing a severe deficiency of CNS myelin. Age-related changes in cerebroside sulfotransferase (measured in brain) and arylsulfatase A and cerebroside B-galactosidase (measured in brain and liver) were the same for shiverer and control mice. The shiverer mouse, therefore, demonstrates a dissociation between the genetic mechanisms regulating myelination in the CNS and developmental changes in enzyme activities thought to be closely related to the synthesis of myelin. In addition, we found no defect in the shiverer mouse in the incorporation of glycine-labeled basic protein into CNS myelin, indicating an important metabolic difference between the morphologically similar shiverer and quaking mutants.

Aging↗