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Biomedical subjects

C Gardner-Thorpe

Publications and source records attributed to C Gardner-Thorpe.

At least 19 recordsLinked to original sources
PubMed1999

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Autosomal dominant cerebellar ataxia type III (ADCA III) is a relatively benign, late-onset, slowly progressive neurological disorder characterized by an uncomplicated cerebellar syndrome. Three loci have been identified: a moderately expanded CAG trinucleotide repeat in the SCA 6 gene, the SCA 5 locus on chromosome 11, and a third locus on chromosome 22 (SCA 10). We have identified two British families in which affected individuals do not have the SCA 6 expansion and in which the disease is not linked to SCA 5 or SCA 10. Both families exhibit the typical phenotype of ADCA III. Using a genomewide searching strategy in one of these families, we have linked the disease phenotype to marker D15S1039. Construction of haplotypes has defined a 7.6-cM interval between the flanking markers D15S146 and D15S1016, thereby assigning another ADCA III locus to the proximal long-arm of chromosome 15 (SCA 11). We excluded linkage of the disease phenotype to this region in the second family. These results indicate the presence of two additional ADCA III loci and more clearly define the genetic heterogeneity of ADCA III.

Adolescent↗
PubMed1990

Intractable epilepsy.

A 26-year-old female had her first partial seizure at the age of five years. Further seizures occurred and later became generalised in nature. Control of the seizures became difficult despite the use of nine different anticonvulsants over a period of 20 years. She was not suitable for neurosurgical intervention because of the diffuse nature of her seizures. Cerebellar stimulation had only a marginal effect on seizure frequency. With time she became mentally retarded and was unable to benefit from formal education. Her illness demonstrates many of the long-term clinical features and management problems of intractable epilepsy.

Adult↗
PubMed1989

Transient ischaemic attacks: a retrospective study of 43 cases.

Forty-three Caucasians with transient ischaemic attacks (TIAs), all age- and sex-match controlled, were retrospectively studied. There was no difference in sex distribution. The peak age for TIAs was 55-64. The haematocrit and cholesterol levels of men were significantly elevated (0.01 greater than P greater than 0.001 for haematocrit, and 0.01 greater than P greater than 0.001 for cholesterol). Six patients were controlled hypertensives but in general there was no significant difference in the blood pressures of patients and controls. The risk factors for TIAs and strokes are discussed.

Adult↗
PubMed1978

McArdle's disease--what limit to the age of onset?

A patient with McArdle's disease is reported in whome proximal muscle weakness began in the 7th decade. Other unusual features included the absence of muscle cramps at any stage, asymmetrical wasting of the shoulder girdle muscles and calf hypertrophy. Muscle biopsy revealed a vacuolar myopathy, absent phosphorylase staining and qualitatively low glycogen content.

Age Factors↗
PubMed1976

Unusual manifestations of herpes zoster. A clinical and electrophysiological study.

The literature on complicated herpes zoster is summarized in this paper. The case histories of 18 patients with herpes zoster are presented. Two patients had encephalitis, 2 had myelitis and the other 14 patients had various types of lower motor neurone disturbance. Both patients with encephalitis--one of who developed choreo-athetosis during the illness--recovered fully. Only 1 of the 2 patients with myelitis recovered fully; the other remains severely paraparetic and the reason for her incomplete recovery may be related to the presence of generalized arteriolar disease associated with seronegative rheumatoid disease. One patient developed a Guillain-Barre syndrome 3 weeks after the onset of herpes zoster. Recovery in the 15 patients with lower motor neurone involvement has been slow butcomplete--or almost complete--in all but 1, a patient with persistent facial weakness as part of the Ramsay Hunt syndrome and who also had weakness of one upper limb. Seven other patients had lower limb weakness. In 2 patients the weakness was confined to abdominal myotomes and 2 other patients had urinary retention. Electromyographic abnormalities were found in the muscles which were weak and frequently also in muscles which appeared strong. It is emphasized that neurological disturbances other than sensory abnormalities may be found in patients with herpes zoster. Motor complications of various types are not uncommon.

Adult↗
PubMed1975

Monozygous twins discordant for multiple sclerosis. Report of one pair and discussion of possible causes of multiple sclerosis.

One pair of male monozygous twins was examined: only 1 twin had multiple sclerosis. Differences in the life histories of the twins were identified. Haematological, biochemical and microbiological studies were performed. It is possible in theory to determine which environmental factors may have been responsible for the development of multiple sclerosis in 1 twin. Several differences in life history were found in this study.

Diseases in Twins↗
PubMed1974

Anterior interosseous nerve palsy: spontaneous recovery in two patients.

The case histories of two patients who developed an anterior interosseous nerve palsy apparently as a result of an external pressure injury are reported. Both patients recovered fully without surgical exploration, one 19 months and the other nine months after the onset. It is stressed that complete recovery may occur spontaneously.

Action Potentials↗
PubMed1974

Jakob-Creutzfeldt disease. Modification of clinical and electroencephalographic activity with methylphenidate and diazepam.

The electroencephalogram in three patients with Jakob-Creutzfeldt disease showed two separate abnormalities-namely, progressive background suppression and periodic generalized synchronous triphasic sharp wave complexes which evolve to a uniform morphology and periodicity. The abnormalities, when found in the EEG of a patient in middle-age with a dementing illness, should not be confused with other periodic electroencephalographic phenomena. Since the neuropathological abnormalities of Jakob-Creutzfeldt disease are non-specific, the electroencephalogram is essential for the recognition of this disorder, although serial recordings may be necessary to establish the diagnosis. Modification of the electroencephalographic abnormalities occurs with afferent stimuli and with methylphenidate or diazepam, suggesting that the phenomenon of background suppression is independent of the presence of the periodic complexes. Modification of clinical activity with methylphenidate suggests that some degree of reversibility of function exists in this inexorably fatal disorder. Further detailed studies of the electroencephalogram in cases of Jakob-Creutzfeldt disease are indicated.

Cerebral Cortex↗