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M Conneally

Publications and source records attributed to M Conneally.

8 recordsLinked to original sources
PubMed1988

A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.

A polymorphic marker (D4S62) that is genetically closely linked to D4S10 and is in the region of the gene for Huntington disease is described. A four-allele polymorphism is detected when HincII-digested DNA is hybridized with D4S62. D4S62 maps, by Southern blot analysis using somatic-cell hybrids, to 4p16.1 closer to the centromere than does D4S10. The use of the polymorphisms detected by D4S62 increases the informativeness of markers close to the gene for Huntington disease and will be useful for preclinical diagnosis. D4S62 detects transcripts of approximately 6,000 nucleotides in rat, mouse, and monkey liver and brain. This represents the first demonstration of conserved expressed sequences close to the gene for Huntington disease.

Alleles↗
PubMed1987

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.

Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.

Female↗
PubMed1977

Cooperative study of hospital frequency and character of transient ischemic attacks. V. Symptom analysis.

All patients (1,328) suspected of having transient ischemic attacks (TIA) who came to six institutions during a 21-month period were identified. Symptoms and symptom complexes were related to the clinical diagnoses by cross-tabulation, factor analysis, and discriminant analysis. The diagnoses obtained by the discriminant analysis program were comparable to those of reviewing clinical neurologists. Symptoms of importance in the vertebral-basilar system (VBS) were bilateral visual blurring, diplopia, ataxia, and dizziness; In either carotid system (CAS), ipsilateral monocular visual disturbance anc contralateral weakness or sensory complaints; in the left CAS, language disturbances; and in those whose ultimate diagnosis was not TIA, loss of consciousness, confusion, and bilateral leg weakness. Patients with VBS TIAs have symptoms common to conditions that are not TIA and have a greater variety of symptoms and more combinations of symptoms than CAS TIA.

Aphasia↗
PubMed1977

A cooperative study of hospital frequency and character of transient ischemic attacks. II. Performance of angiography among six centers.

Angiographic procedures were carried out on 36% of 1,328 patients suspected of having transient ischemic attacks (TIA). Among six participating centers, this ranged from 13% to 82%. This large difference might be related to the number of patients considered good surgical candidates and differences in the use of screening noninvasive diagnostic techniques. Arch studies, using catheter techniques, were performed most often. Although 13% of the patients had transient complications, permanent neurological deficits occurred in only 0.65%. Angiographic lesions were best correlated to clinical symptoms in those patients thought to definitely have carotid artery system TIA but were commonly seen in all other groups. Thus, clinical correlation was poor.

Basilar Artery↗
PubMed1977

Cooperative study of hospital frequency and character of transient ischemic attacks. I. Background, organization, and clinical survey.

To better understand transient ischemic attacks (TIA), all patients (1,328) with TIA-like symptoms were identified at six participating institutions representing known variations in geography, referral patterns, and socioeconomic status. A total of 954 patients were observed for a mean of 14.3 months. Problems in diagnosis are defined, demographic information is summarized, and features of the histroy, examination, tests, and treatments are noted.

Age Factors↗