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Biomedical subjects

T D Bird

Publications and source records attributed to T D Bird.

At least 145 records · Page 8Linked to original sources
PubMed1989

Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome.

We present a 22-year follow-up of a large and unusual kindred previously reported as familial Alzheimer's disease (FAD). However, detailed clinical and neuropathologic evaluation of family members and brain autopsy on another affected individual now make the diagnosis of FAD unlikely. Our patient, as well as members of this family, had numerous amyloid plaques and rare neurofibrillary tangles. These plaques were quite atypical for Alzheimer's disease (AD); many were quite large (up to 500 microns in diameter) and contained several amyloid cores, some with neuritic components. The plaques were present throughout the cerebral cortex and striatum, but not in the cerebellum. By electron microscopy, they had radiating star-shaped amyloid cores containing 8- to 10-nm fibrils, and a few dystrophic neurites. They were strongly immunoreactive with antiserum to prion protein but did not react with the antiserum to the amyloid A4 protein of AD. Although the cerebellum was uninvolved, this family appears to represent another clinical and neuropathologic variant of Gerstmann-Sträussler syndrome.

Adult↗
PubMed1989

Characteristics of familial Alzheimer's disease in nine kindreds of Volga German ancestry.

We report the clinical and neuropathological manifestations of Alzheimer's disease (AD) in nine kindreds of German ancestry all originating from the same two adjacent villages on the West bank of the Volga River. There have been 89 known demented persons (53 male, 36 female). Mean age of onset is 57.6 +/- 8.4 years with a range of 40 to 84. Mean age at death is 66.5 +/- 7.6 years with a range of 50 to 80. Mean disease duration is 10.3 +/- 4.8 years with a range of 3 to 23. Detailed medical records were available on 50 individuals. Of these, 24% had a seizure, 72% language disturbance, 36% rigidity, 16% tremor and 12% myoclonus. There were 15 autopsies on demented persons from 6 of the kindreds. One brain suggested Creutzfeldt-Jakob disease (CJD) in a woman with the typical clinical course. The remaining 14 brains showed typical neuropathological characteristics of AD including neuritic amyloid plaques, neurofibrillary tangles, amyloid angiopathy and granulovacuolar change. Amyloid plaques were also seen in the cerebellum in all but one brain in which this region was available for review. Autopsy material from five brains in four families has been stained with antibody directed against the amyloid peptide; in all cases, the neuritic plaques stained positively. Many of the families share common surnames. It is likely that these Volga German kindreds carry the same genetic mutation leading to Alzheimer's disease; and thus, they are a valuable resource for genetic investigations of AD. Thus far, the disease in these kindreds does not show close linkage to either the D21S1 or beta amyloid gene loci on chromosome 21.

Adult↗
PubMed1989

Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome.

The Charcot-Marie-Tooth (CMT) syndrome is also referred to as hereditary motor-sensory neuropathy (HMSN). It is not a single disease but has a multitude of genetic causes. The typical clinical characteristics are distal muscle weakness and atrophy, depressed tendon reflexes, often slow motor NCV, and the frequent finding of other similarly affected relatives. The most common variant of this syndrome is HMSN-I showing autosomal dominant inheritance, markedly slow motor NCV and nerve hypertrophy. One form of HMSN-I is linked to the Duffy locus on chromosome 1. There are numerous other varieties of HMSN including other autosomal dominant conditions such as HMSN-II (with nearly normal motor NCV) and several types of familial amyloid neuropathy (with specific amino acid substitutions in transthyretin); autosomal recessive conditions such as HMSN-III (Déjérine-Sottas hypertrophic neuropathy of childhood) and Refsum's disease (defect of phytanic acid metabolism); and conditions produced by mutations on the X chromosome such as X-linked HMSN, Fabry trihexoside storage disease, and adrenomyeloneuropathy. The known biochemical abnormalities, chromosomal locations, clinical findings and genetic counseling of these disorders are reviewed.

Charcot-Marie-Tooth Disease↗
PubMed1988

Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease.

Alzheimer's disease is the most common form of dementia among the elderly population. Although the etiology is unknown, inheritance plays a role in the pathogenesis of the disease. Recent work indicates that an autosomal dominant gene for Alzheimer's disease is located on chromosome 21 at band q21. In the present study of a group of autopsy-documented kindreds, no evidence for linkage was found between familial Alzheimer's disease (FAD) and chromosome 21q21 markers (D21S1/D21S72 and the amyloid beta gene). Linkage to the D21S1/D21S72 locus was excluded at recombination fractions (theta) up to 0.17. Linkage to the amyloid gene was excluded at theta = 0.10. Apparent recombinants were noted in two families for the amyloid gene and in five families for the D21S1/D21S72 locus. These data indicate that FAD is genetically heterogeneous.

Alzheimer Disease↗
PubMed1988

Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect.

Five families are described in which autopsy-confirmed presenile Alzheimer's disease (AD) has occurred in men and women over multiple generations consistent with autosomal dominant inheritance. All 5 families are descendants of a group of immigrants known as the Volga Germans who came to the United States between 1870 and 1920. Their ancestors moved from Germany to the southern Volga region of Russia in the 1760s. All 5 American families are descendants of persons originally living in two small adjacent Volga German villages and share several surnames known to have been present in the census records of those villages. Although a single affected common ancestor cannot be identified, it is likely that the AD in these families represents an autosomal dominant gene inherited from one ancestor (the founder effect). This information is of importance in the genetic study of AD in these families because it greatly increases the probability of genetic homogeneity. There are more than 300,000 American descendants of the Volga Germans, and the prevalence of AD has never been studied in this population.

Adult↗
PubMed1987

The use of apolipoprotein CII as a genetic marker for myotonic dystrophy.

In five families we have confirmed the close linkage between the genes for myotonic dystrophy and apolipoprotein CII. The total maximum lod (log of the odds) score was 3.32 at 0 recombination. We demonstrate that the use of a Ban I restriction site polymorphism for apolipoprotein CII adds additional useful information when combined with the more commonly used Taq I polymorphism. The potential practical clinical use of these markers for the prenatal diagnosis of myotonic dystrophy is demonstrated.

Apolipoprotein C-II↗
PubMed1987

The frequency of C4B variants of complement in familial and sporadic Alzheimer disease.

A previous study reported an unexpected increased frequency of the uncommon C4B2 allele of complement in a group of patients with senile dementia of the Alzheimer type. We compared the frequency of various C4B types in 25 patients with familial Alzheimer dementia (AD), 22 patients with sporadic AD, and 360 control individuals. Neither Alzheimer group showed any significant increase or decrease in the frequency of C4B alleles compared with controls. We were unable to confirm any association between AD and the C4B2 allele.

Adult↗
PubMed1987

Genetic considerations in childhood epilepsy.

This report reviews various lines of evidence demonstrating important genetic influences in the epilepsies, with special emphasis on childhood epilepsy. Five pertinent topics are discussed: (a) examples of dominant, recessive, and X-linked single-gene disorders known to be associated with epilepsy, (b) examples of gross chromosomal aberrations associated with epilepsy, (c) discussion of multifactorial and polygenic inheritance and issues of genetic heterogeneity with specific reference to idiopathic generalized epilepsy, febrile seizures, and infantile spasms, (d) brief review of experimental clues to possible pathogenetic mechanisms underlying genetic forms of epilepsy, and (e) an overview of strategies for applying genetic linkage analysis to hereditary epileptic disorders.

Central Nervous System Diseases↗
PubMed1987

Genetic linkage relationships of Charcot-Marie-Tooth disease (HMSN-Ib) to chromosome 1 markers.

Hereditary motor and sensory neuropathy-Ib (HMSN-Ib) is a common autosomal dominant disorder linked to the Duffy blood group locus on human chromosome 1. The gene for antithrombin III (AT3) is also located on the long arm of chromosome 1. Using a DNA restriction fragment length polymorphism for AT3, we have investigated the genetic linkage relationship of all three markers (HMSN-Ib, Duffy, and AT3) in two affected families. Neither HMSN-Ib nor Duffy was tightly linked to AT3. The loci for both HMSN-Ib and Duffy must be close to the centromere on chromosome 1, but precise localization and gene order require study of additional markers and more families.

Adolescent↗
PubMed1987

Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type.

In order to identify the genetic locus responsible for familial dementia of the Alzheimer type (DAT), we are studying 10 families in which DAT appears to be inherited as an autosomal dominant trait. Genotypes for a TaqI restriction fragment length polymorphism (RFLP) at the apolipoprotein CII locus were determined for the following groups: affected and unaffected DAT family members, DAT subjects with no family history of the disease, and normal control subjects. The control group included 103 individuals from our study and 123 from the study of Wallis et al. (Hum. Genet., 68 (1984) 286). The frequency of the TaqI fast (F) allele in the affected familial DAT subjects (0.64 +/- 0.08) differed significantly from that for the control group (0.39 +/- 0.02) (Z = 2.87, P less than 0.005). In contrast, the F-allele frequency for the unaffected family members was 0.31 +/- 0.09, which was similar to that of the combined control group (Z = 0.78, P greater than 0.40). Subsequently, genotypes were determined for two other polymorphisms at the Apo CII locus: a BanI RFLP and a BglI RFLP. For these two polymorphisms, the allele frequencies for the familial DAT subjects differed from the unaffected control groups but the differences were smaller and not statistically significant. These data suggest a previously unrecognized association between the Apo CII TaqI F-allele and familial DAT.

Aged↗
PubMed1985

Hazardous lead release from glazed dinnerware: a cautionary note.

Numerous pieces of contemporary glazed pottery dinnerware made in Italy and Mexico have been shown to release excessive amounts of lead, greater than 1000 ppm in several instances. Extended use with frequent scouring increased the lead release. This pottery, manufactured under obsolete conditions, may be imported into the United States by tourists, retail merchants and immigrants, and used for daily cooking and storage of food and beverages. Our findings demonstrate a potentially widespread health hazard both in the countries of origin of the pottery and the countries of importation.

Adult↗
PubMed1985

Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks.

The Dandy-Walker malformation (DWM) includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. Genetic influences and recurrence risks for DWM have not been well characterized. We report a retrospective study of 21 autopsy-proven cases of DWM and review the literature regarding an additional 92 subjects. DWM represents marked genetic and etiologic heterogeneity. Recurrence risk for siblings may be high when DWM is associated with a single gene disorder such as the autosomal recessive Warburg and Meckel-Gruber syndromes. DWM may also result from chromosomal anomalies or environmental factors. When the evidence suggests that DWM has not occurred as part of a Mendelian or chromosomal disorder then the recurrence risk is relatively low (on the order of 1 to 5%). There appears to be an increased frequency of the association of DWM with congenital heart disease, cleft lip/palate and neural tube defects. Based on our study we provide guidelines for the genetic counseling of families having a child with DWM.

Abnormalities, Drug-Induced↗
PubMed1985

Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.

We report two families in which a non-progressive spinocerebellar syndrome and a sideroblastic anaemia are segregating together in an X linked recessive fashion. Four males in two generations of one family and a fifth male from an unrelated family had both conditions. Both the sideroblastic anaemia and the spinocerebellar syndrome differ from those which have previously been reported to be inherited in an X linked recessive manner. The association of these two clinically distinct disorders in two unrelated families suggests that they are either two closely linked loci which have undergone simultaneous mutation or pleiotropic effects of an altered allele at a single locus. All the heterozygous women had normal neurological examinations and normal haematocrits and red cell indices. Some had ring sideroblasts on bone marrow examination, a dimorphic peripheral blood smear, and raised serum free erythrocyte protoporphyrin, suggesting that a proportion of heterozygotes can be detected by appropriate haematological studies.

Anemia, Sideroblastic↗
PubMed1985

Pseudotumour cerebri and the Turner syndrome.

One of 170 patients with karyotype-proven Turner syndrome from our institution has had pseudotumour cerebri. This patient and one previous report suggest that patients with Turner syndrome may be predisposed to increased intracranial pressure. Fourteen patients with pseudotumour cerebri were ascertained from hospital records; karyotypes of four were obtained and were normal. Karyotyping may be appropriate in women with pseudotumour cerebri who also have infertility, short stature, multiple pregnancy losses, or other features suggestive of Turner syndrome.

Child↗
PubMed1984

Autonomic nervous system function in genetic neuromuscular disorders. Hereditary motor-sensory neuropathy and myotonic dystrophy.

Three quantitative measures of autonomic nervous system (ANS) function were evaluated in 12 patients with two types of autosomal dominant neuromuscular disorder, type 1 hereditary motor-sensory neuropathy and myotonic dystrophy. The three measures were latency of the pupillary light reflex, dark-adapted pupil size during parasympathetic blockade, and ECG RR interval variation. The results showed deficits in sympathetic and/or parasympathetic nervous system function in several patients, with a variability of expression expected in autosomal dominant genetic diseases. The ANS function may commonly be deficient in both of these disorders. Further investigation is required to determine the potential clinical importance of these findings.

Adult↗