Ataxia-Telangiectasia with A 32 Year Survival

Abstract

The clinicalpathological findings in a 32-year old woman with ataxia-telangiectasia are presented. This is the oldest patient with this disease to be studied thoroughly clinically and at autopsy. Multiple small gliovascular malformations in the brain and spinal cord and telangiectasis of the liver were found. Other advanced lesions of ataxia-telangiectasia are illustrated. The vascular malformations of the central nervous system and liver are unique. The patient died of a malignant lymphoproliferative disorder and had five other malignant and benign neoplasms.

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myclonia: a probable ataxia telangiectasia variant

“…Prolonged survival in AT patients has been reported [5,17,19,28,29]. This is also a conspicuous feature in our patients.…”

“…Our patients differ from those of these authors in that they were not quadriplegic, had retained tendon reflexes, except at the ankles, showed only mild sensory deficits and had normal ocular fundi, none of them was obese. Although distal limb wasting is well-known in advanced stages of AT [3,5,[17][18][19], progressive amyotrophy as a prominent symptom in the early stages of this disorder is unusual. In the presumed case of AT reported by Terenty et al [20] the polyneuropathy appeared late in the second decade and preceded the ataxia, ocular telangiectasia was absent and there was a history of consanguinity.…”

“…Loss of large myelinated fibres in sural nerve biopsies is a frequent finding [16,21,23]. Neurogenic muscular atrophy is also regularly reported [5,18,19]. Kwast and Ignatowicz [22] suggest that the slowly progressive sensory system degeneration and the neurogenic amyotrophy could be regarded as characteristic features of AT.…”

Investigating neural connectivity of corticomotor networks in ataxia telangiectasia: improving our understanding of the clinical phenotype

“…The presence of numerous Lewy bodies and moderate nerve cell loss in the substantia nigra represent part of these changes. [87][88][89][90][91] Haemosiderin scarring in frontal lobe white matter (WM), the parietal area, including the parietal operculum, in the temporal lobe, in the subcortical area of both occipital lobes and capsula externa has been reported. 91,92 Smaller scarring has been observed in the WM of the precentral and postcentral gyrus 92 as well as moderate cortical gliosis of the central and parietal gyri.…”

“…88 Lesions within the thalamus have been reported. 88,90 Basal ganglia pathology in A-T has also been described, particularly glial scarring and demyelination in the frontal plane sections of both basal ganglia hemispheres. 92 Cerebellar pathology in A-T includes cerebellar atrophy of the frontal and posterior vermis and atrophy of both cerebellar hemispheres, particularly in the middle and superior cerebellar peduncles (brachia pontis and conjunctiva, respectively).…”