Biomedical subjects
Publications and source records attributed to A J Larner.
The numerous advances in the understanding of the neurobiology of Alzheimer's disease in the past 15 years have suggested many new potential targets for therapeutic intervention. This article gives a broad overview of the spectrum of targets for AD treatment, with particular emphasis on amyloid beta-peptides and tau protein.
With increasing personal access to the internet, and the mass of medical information available in cyberspace, many patients may access information before an outpatient consultation. Since this information may shape individual health beliefs and expectations, yet is acknowledged to be of very variable quality, it may be important for practitioners to know about their patients' self-directed findings. Medical information may also be gained from the NHS Direct telephone helpline. This study measured the frequency of use of the internet and of NHS Direct by questioning consecutive new referrals attending general neurology outpatient clinics over a three-month period. A comparison was made between patients' searches and their final diagnosis. Patients' views on the use of the information received were sought.
Paraesthesia is a common presenting complaint in vitamin B12 deficiency. Since this condition is partially reversible with repletion, this is a diagnosis not to be missed. Two cases in which the diagnosis was initially overlooked are presented, emphasising that the paraesthesia associated with vitamin B12 deficiency may be central (myelopathic) or peripheral (neuropathic) in origin.
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We report a patient with isolated familial hypomagnesaemia with hypocalciuria, a rare congenital disorder of magnesium metabolism. During adolescence the patient developed neurological and ophthalmological features not hitherto reported in this condition, including seizures, myoclonus, and retinal pigmentary degeneration. These suggested the phenotype of mitochondrial disease, which has been occasionally reported in association with hypomagnesaemia, but subsequent investigations of mitochondrial function were normal. The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain.
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Camptodactyly is a non-neurogenic flexion deformity of the proximal interphalangeal joint, most commonly affecting the little finger. The frequency of camptodactyly in patients referred to three general neurology outpatient clinics, two in district general hospitals and one in a regional neuroscience centre, over the course of one year (2000) was measured. Five out of 978 consecutive new outpatients (0.5%) had camptodactyly (2 M, 3 F); four had bilateral deformity. In only one was camptodactyly the reason for referral. In two cases, camptodactyly was entirely incidental to the neurological symptoms; in two others it was incidental but might have been confused with the neurological features. In three cases other family members were affected, in a manner consistent with autosomal dominant inheritance with variable penetrance. Camptodactyly is not infrequently observed in the general neurology outpatient clinic. It merits attention in order to avoid confusion with other, neurogenic, causes of clawing, and so avoid unnecessary investigation.
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We report a patient who developed a transverse myelitis with Brown-Séquard syndrome following a prophylactic influenza vaccination, despite being chronically immunosuppressed for a steroid-responsive optic neuropathy. Although influenza vaccination is recommended in patients receiving chronic immunosuppression, its use may on occasion be associated with neurological complications previously reported in immunocompetent individuals.
We report a patient with common variable immunodeficiency (CVID) who developed an axonal sensorimotor polyneuropathy, a hitherto unreported association to our knowledge. These conditions may be linked at the pathogenetic level, since some CVID patients are prone to the development of autoimmune disease.
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The ice pack test may be helpful in establishing that ptosis is due to ocular myasthenia gravis, since cold improves neuromuscular transmission. However, the role of the test in determining whether diplopia is of myasthenic origin has yet to be established.
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Weber-Christian disease is an inflammatory disorder of fatty tissue which usually presents with raised red tender nodules in the skin. Although there may be additional systemic upset, there are very few reports of neurological features associated with this condition. We report a patient with biopsy-confirmed systemic Weber-Christian disease in whom a transient partial myelopathy, of probable inflammatory origin, was the most prominent feature. Based on recent reports of the effects of immune mediators on neuronal function, a possible pathogenetic explanation for this syndrome is suggested.
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