Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.
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Blood Group Antigens↗
Biomedical subjects
R J Guiloff
Publications and source records attributed to R J Guiloff.
Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.
Data from English families confirms the probable linkage of the loci for autosomal dominant type I hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. The locus for autosomal dominant type I HMSN is in chromosome 1 near the centromere, about 15 centimorgans from the Duffy locus. The linkage between type I HMSN and the Duffy locus and the two recombinants found between Duffy and type II HMSN support the hypothesis that there are at least two genetic variants of autosomal dominant HMSN.
Adult↗
Organic convergence spasm.
Convergence spasm has frequently been reported as a hysterical manifestation. A case presenting with this sign and diphenylhydantoin intoxication is described. Other previously reported organic associations are discussed. Convergence spasm may be seen in association with significant organic disease of the nervous system affecting the cerebral hemispheres, the brain-stem, or both.
Adolescent↗
Motor neurone disease with elevated cerebrospinal fluid protein.
The correlation between age and CSF protein in 38 patients with pathologically proven motor neurone disease was the reverse of that described for normal subjects by Tibbling et al in 1977. Eight had CSF protein ranging from 0.75 g/1 to 1.52 g/L. These patients were younger, but other clinical and gross and light microscopy pathological features were not significantly different from those with lower CSF protein. Transudation from serum may be only one of the mechanisms underlying this elevation in CSF protein.
Adolescent↗
Reversible supranuclear ophthalmoplegia associated with Parkinsonism.
Two patients presented with a supranuclear ophthalmoplegia and clinical features otherwise indistinguishable from classical Parkinson's disease. Both had intercurrent infection, and recovery from the ophthalmoplegia paralleled that from the infection, but the Parkinsonian features improved more gradually on increasing doses of levodopa.
Aged↗
Carbamazepine in Morton's neuralgia.
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Aged↗
Breach rhythm: the EEG related to skull defects.
From 33 patients with skull defects 89 EEGs were recorded, most with X ray control of the electrode sites. In 10 patients records were made shortly before and about 10 days after bone replacement. The remaining cases had EEGs either with or without bone replacement. The amplitude of alpha and frontal fast rhythms might be increased over or near unilateral posterior and frontal defects respectively. This enhancement was by a factor of less than 3. Since the electrode involved might not be in the defect but on adjacent bone this does not seem to be an effect of greater proximity to the generators. In 21 cases with defects involving or near to electrodes C3(/) and T3(4) sharply focal mu-like rhythms at 6--11 c/sec, usually with faster components, were seen. They formed two groups, at C3(4), responsive to fist clenching and other stimuli (not to eye opening) and at T3(4), unresponsive to any stimulus. In both groups the waves often had spike-like negative phases, but true spikes and also random slow waves with the same restricted focus and responsiveness were sometimes seen. Because of this complexity we prefer the term breach rhythm to mu or mu-like. Bone (or acrylic) replacement abolished central breach rhythm in 3 cases, but not in others and it might or might not restore the symmetry of alpha rhythm or fast rhythm, but burr holes, saw cuts etc., always remain after craniotomy. It is argued that, with the possible exception of 2 patients, the breach rhythms described in this series do not represent enhanced normal mu rhythm. Breach rhythm, even when very spike-like, appears to have little relationship to epilepsy and is not an indicator of recurrence of a tumour.
Adolescent↗
Sensory conduction in medial plantar nerve: normal values, clinical applications, and a comparison with the sural and upper limb sensory nerve action potentials in peripheral neuropathy.
A method for recording the medial plantar sensory nerve action potential at the ankle with surface electrodes is described. Normal values in 69 control subjects are given and compared with the sural sensory nerve action potential in the same limb in the same subjects. Clinical applications were studied in 33 patients. The procedure may be applied in the diagnosis of L4-5 nerve plexus or root lesions, lesions of the sciatic, posterior tibial, and medial plantar nerves, and is a more sensitive test than other sensory nerve action potentials in the diagnosis of peripheral neuropathy.
Action Potentials↗
Peripheral nerve conduction in Miller Fisher syndrome.
Two cases of acute ophthalmoplegia, ataxia, and arreflexia with high CSF protein are reported (Miller Fisher syndrome). Detailed EMG and nerve conduction studies showed abnormal conduction in peripheral sensory fibres from the initial stages of the illness in both patients. Careful review up to 10 months after the onset was required to document the sensory conduction abnormality properly in one of them. The electrical findings did not differ from those that can be seen in the Guillain-Barré syndrome and provided no clues as to the mechanism of the ataxia.
Acute Disease↗
Innervation of the trapezius muscle: a study in patients undergoing neck dissections.
Twenty-four patients with surgical section of the accessory nerve and/or its cervical contribution(s) were examined from 1 to 156 months after surgery, and compared to twenty controls. Thirteen patients had a classical neck dissection; seven had the whole length of the accessory nerve preserved but not the cervical plexus contributions. Four had the upper half of the accessory nerve sectioned, but with preservation of both the lower half and its cervical contributions. Clinical and electrophysiological studies of the three portions of the trapezius suggested the existence of an undescribed motor nerve supply to the trapezius and of a motor input from the cervical plexus contributions via the accessory nerve. The former is also supported by an anatomical study.
Accessory Nerve↗
Unusual development of polyoma virus in the brains of two patients with the acquired immune deficiency syndrome (AIDS).
Two HIV-positive male patients presented with a variety of symptoms including hemiparesis, unsteadiness, progressive loss of vision and poor memory. There were multiple non-enhancing lesions shown by CT scan in the white matter of the cerebral hemispheres. Specimens obtained by burr-hole biopsy showed the features of progressive multifocal leucoencephalopathy (PML) in both cases. Electron microscopy demonstrated round and rod shaped particles of papovavirus in the nuclei and cytoplasm of oligodendrocytes and in processes of astrocytes where abnormal and florid modes of viral replication were seen. Additional features observed were viral particles suggestive of an enterovirus in Case 1 and, in both specimens, massive membrane proliferation within both nuclei and cytoplasm of infected cells together with the presence of tubuloreticular structures (TRS) in the cytoplasm of endothelial cells. At post-mortem, the brain of patient 2 showed PML and HIV encephalitis. The presence of HIV was confirmed by immunohistochemical methods. We suggest that in AIDS patients the abnormality of the immune system induced by HIV causes abnormal replication patterns of papovavirus in the brain. In addition, these cases confirm the frequent occurrence in AIDS patients of TRS, now considered to be a marker for HIV.
Acquired Immunodeficiency Syndrome↗
Thalidomide, peripheral neuropathy and AIDS.
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Acquired Immunodeficiency Syndrome↗