Genetic aspects of hereditary motor and sensory neuropathy (types I and II).
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Charcot-Marie-Tooth Disease↗
Biomedical subjects
A E Harding
Publications and source records attributed to A E Harding.
Autosomal recessive forms of hereditary motor and sensory neuropathy.
Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly earlier for the type II cases but did not differ for the type I patients. Motor nerve conduction velocity was significantly less for the type I cases but did not differ for the type II form. The recessive type I cases tended to show a greater incidence of weakness, ataxia, tendon areflexia and scoliosis than in the dominant form. The importance of differentiating such cases from Friedreich's ataxia is emphasised.
Adolescent↗
Contrast-enhanced lesions on computerised tomography in multiple sclerosis.
Two patients are described in whom computerised tomography revealed contrast-enhanced lesions in the early stages of multiple sclerosis. Such lesions may be differentiated from tumours by their transient nature, lack of space-occupying effect, and localisation in the white matter. Contrast enhancement in demyelinating disease is probably related to local breakdown of the blood-brain barrier.
Adult↗
Bladder rupture in multiple sclerosis.
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Female↗
Carpal tunnel syndrome related to antebrachial Cimino-Brescia fistula.
Two patients are described in whom symptoms of the carpal tunnel syndrome were provoked by haemodialysis for which an antebrachial arteriovenous fistula had been established. The symptoms in one case were partially relieved by ligation of the radial artery distal to the fistula, and in both they were abolished by decompression of the median nerve by section of the flexor retinaculum at the wrist. There is evidence that the median nerve is abnormally susceptible to ischaemia in the carpal tunnel syndrome, and it is suggested that in these patients the symptoms were provoked by a vascular steal mechanism related to the fistula.
Adult↗
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)--confirmation by cerebral biopsy in 2 cases.
CADASIL is a recently recognized familial form of subcortical multi-infarct dementia. The pathogenesis of the disease is unknown, but it is characterized pathologically by a novel vasculopathy affecting leptomeningeal and subcortical arteries. We describe 2 cases in which the diagnosis could be made from the cerebral biopsy appearances of affected leptomeningeal vessels. The ultrastructural appearances of the vessel wall deposit are illustrated, and their similarity to those of immune complex deposits discussed.
Biopsy↗