A Case of Ataxia-Telangiectasia With Lesions in the Spinal Cord

Sourander, Patrick; Bonnevier, John Olof; Olsson, Yngve

doi:10.1111/j.1600-0404.1966.tb01187.x

Cited by 26 publications

(29 citation statements)

References 16 publications

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“…1969). Necropsies have also revealed a loss of myelinated fibres in the sensory pathways of the spinal cord (Boder and Sedgwick 1957, Strich 1966, Aguilar et al 1968, and Sourander et al (1966) reported a 14-year-old patient with severe demyelination of the dorsal tracts, including the cuneate and gracile fascicles, which was more pronounced in the cervical area.…”

Section: Discussionmentioning

confidence: 99%

Progressive Peripheral Neuron Degeneration In Ataxia‐Telangiectasia: An Electrophysiological Study In Children

Kwast

Ignatowicz

1990

Develop Med Child Neuro

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SUMMARY Electrophysiological examinations were performed on 32 children aged three to 17 years who had typical clinical manifestations of ataxia‐telangiectasia (AT). EMG findings demonstrated neurogenic lesions, more pronounced in the distal leg muscles of older children where they resembled the picture characteristic of motor neuron disease. Electrophysiological and nerve conduction results showed that generalised, progressive, sensory nervous system degeneration, with neurogenic amyotrophy affecting the distal part of the lower limbs, is an established feature of this disease and can be considered one of the diagnostic characteristics of AT. This allows the syndrome to be classified as an hereditary spinocerebellar degeneration. RÉSUMÉ Dégénération neuronale périphérique progressive dans I'ataxie/télangiectasie: étude électrophysiologique chez I'enfant Des examens électrophysiologiques ont été réalisés chez 32 enfants àgés de trois à 17 ans, présentant les signes cliniques manifestes d'une ataxie‐télangiectasie (AT). Les données EMG démontrérent l'existence de lésions neurogéniques, plus prononcées sur les muscles distaux des jambes, chez les enfants les plus àgés, évoquant les images caractéristiques d'affections du neurone moteur. Les résultats de l'électrophysiologie et de la conduction nerveuse révélérent qu'une dégénération généralisée, du systéme nerveux sensoriel avec amyotrophie neurogénique affectant la partie distale des membres inférieurs est une donnée établie de la maladie et peut étre considérée comme une caractéristique diagnostique de l'AT. Cela permet de classer le syndrome comme une dégenération héréditaire spino‐cérébelleuse. ZUSAMMENFASSUNG Progressive periphere Neurodegeneration bei der Ataxia‐Teleangiectasia: eine elektrophysiologicshe Untersuchung bei Kindern Bei 32 Kindern in Alter zwischen drei und 17 Jahren, die typische klinische Merkmale einer Ataxia‐Telangiectasia (AT) hatten, wurden elektrophysiologische Untersuchungen durchgeführt. Die EMG‐Befunde zeigten neurogene Läsionen, die bei älteren Kindern in den distalen Beinmuskeln ausgeprägter waren und dem charakteristischen Bild einer Erkrankung des Motorneurons ähnelten. Die elektrophysiologischen Befunde und die Nervenleitgeschwindigkeiten zeigten, daβ eine generalisierte, progressive Degeneration des sensiblen Nervensystems mit neurogener Amyotrophie des distalen Anteils der unteren Extremitäten ein sicheres Merkmal dieser Erkrankung ist und als eins der diagnostischen Charakteristika für die AT angesehen werden kann. Damit kann das Syndrom als eine hereditäre spinocerebelläre Degeneration klassifiziert werden. RESUMEN Degeneracion neuronal periférica progresiva en la ataxia telangiectasis Se relizaron exämenes electrofisiológicos en 32 niños de tres a 17 años, que tenían manifestaciones clinicas típicas de ataxia‐teleangiectasia (AT). Los hallazgos EMG demostraron una lesión neurogénica más pronunciada en los músculos distales de la pierna en los niños mayores, que se parecia al cuadro caracteristico de la enfermedad neuronal mot...

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Section: Discussionmentioning

confidence: 99%

Progressive Peripheral Neuron Degeneration In Ataxia‐Telangiectasia: An Electrophysiological Study In Children

Kwast

Ignatowicz

1990

Develop Med Child Neuro

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“…We predict more pronounced GM changes would be observed in an older A-T cohort, as suggested from reported post-mortem findings. 93 In terms of WM, we show changes associated with a number of cerebellar-corticomotor pathways, predominately within the left hemisphere in our A-T subjects. The localisation of changes to the dominant hemisphere is not clear.…”

Section: Discussionmentioning

confidence: 99%

“…Note that our analysis consisted of young children with A-T, in whom, generally, GM changes are rarely seen. 88,93,96,97 Serial qualitative analysis of high-resolution MRI data was not performed in this study and so trajectories of GM changes with age is yet to be established in A-T. In addition, correlation of VBM results with clinical scores was not performed, because scoring was incomplete (Table 3.1).…”

Section: Discussionmentioning

confidence: 99%

“…Proximal spinal root demyelination and fibrosis, focal necroses in the anterior spinal cord and abnormal grey matter (GM) structures in the cervical and lumbar spinal cord have also been recorded. 93 Pallor regions and demyelination in the posterior spinal column have been described, particularly in the fasciculus gracilis, to a lesser degree in the fasciculus cuneatus, in the crossed pyramidal tracts and in dorsal spinocerebellar tracts. [87][88][89][90][91][94][95][96][97] Demyelination of the entire posterior funiculi, 92 the fasciculus proprius, the lateral corticospinal tracts 89 and the gliosis of the anterior funiculi have also been recorded.…”

Section: Spinal Cordmentioning

confidence: 99%

“…160,161 DTI and fibre tracking have been applied to study cerebellar -corticomotor networks in a number of ataxic conditions [21][22][23][24][25][26][27][28] other than A-T. Although histopathological evidence for collective atrophy in pontocerebellar pathways, 87 altered evoked potentials and myelinated fibre loss in spinal cord sensory pathways, 4,88,93,94,97,184,185 and demyelination of corticospinal tracts (CST) have been reported in A-T, 87,89 these findings relate to post-mortem studies, usually at the end stages of disease. dMRI studies that employ probabilistic tractography to analyse WM pathway integrity and connectivity to multiple brain regions is urgently required to fully understand the impact of the ATM gene mutation on A-T motor circuits.…”

Section: Introductionmentioning

confidence: 99%

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

Sahama¹

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The human genetic disorder ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative condition occurring in 3 per million live births. The disease is characterised by neurodegeneration, immunodeficiency, radiosensitivity, cell cycle checkpoint defects, genomic instability and cancer predisposition among patients. The most debilitating aspect of the disease is progressive cerebellar ataxia, which represents the hallmark neuropathological condition of A-T.At present, long term therapy to cure or prevent progressive symptoms of A-T are not currently available. While short term treatment to alleviate symptoms associated with immunodeficiency and deficient lung function are available to patients, the predisposition to cancer and the progressive neurodegeneration associated with A-T cannot be prevented with such efforts. To gain a more informed understanding of the A-T condition, research has focused on clinical, genetic and immunological aspects of the disorder; however, minimal attention has been directed towards identifying altered brain structure and function using imaging modalities such as magnetic resonance imaging (MRI).Imaging studies in A-T are limited to structural MRI imaging, where various radiological anomalies in patients are reported as clinical case studies. While these studies provide a detailed focus on the morphological and histopathological conditions of A-T, they provide limited insight into the mechanisms of neurodegeneration and loss of neural motor network connectivity among patients. In other ataxic diseases such as Friedrich's ataxia and spinocerebellar ataxia, the use of high-resolution MRI and diffusion-weighted imaging (DWI) has given valuable insight into the microstructural tissue environment, and the loss of white matter integrity of motor networks due to abnormal neurodevelopmental and/or progressive neurodegenerative conditions associated with the disease.Such imaging approaches have not yet been extended to the study of A-T, and could provide important new information regarding the relationship between the ataxia-telangiectasia gene mutation (ATM) and loss of motor pathway integrity in A-T patients. ivThe key objective of this PhD programme was to investigate white matter integrity and grey matter volume changes associated with A-T using a combination of structural MRI and diffusion-weighted imaging, to pinpoint potential neurodegenerative biomarkers that can be targeted for therapeutic use among young A-T patients. Performing diffusion imaging in children with A-T presents a significant challenge, as spontaneous movement at resting positions form part of the A-T condition, and nonsedated imaging procedures will contribute to excessive motion artefact and limited image quality in diffusion-weighted images. To effectively detect and correct for motion artefacts, a series of data preprocessing and correction steps were introduced to the DWI processing pipeline of A-T images in this project. Whole brain imaging analysis, specifically voxel-based morphometry (based...

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Altered corticomotor‐cerebellar integrity in young ataxia telangiectasia patients

et al. 2014

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Magnetic resonance imaging (MRI) research in identifying altered brain structure and function in ataxia‐telangiectasia, an autosomal recessive neurodegenerative disorder, is limited. Diffusion‐weighted MRI were obtained from 11 ataxia telangiectasia patients (age range, 7‐22 years; mean, 12 years) and 11 typically developing age‐matched participants (age range, 8‐23 years; mean, 13 years). Gray matter volume alterations in patients were compared with those of healthy controls using voxel‐based morphometry, whereas tract‐based spatial statistics was employed to elucidate white matter microstructure differences between groups. White matter microstructure was probed using quantitative fractional anisotropy and mean diffusivity measures. Reduced gray matter volume in both cerebellar hemispheres and in the precentral‐postcentral gyrus in the left cerebral hemisphere was observed in ataxia telangiectasia patients compared with controls (P < 0.05, corrected for multiple comparisons). A significant reduction in fractional anisotropy in the cerebellar hemispheres, anterior/posterior horns of the medulla, cerebral peduncles, and internal capsule white matter, particularly in the left posterior limb of the internal capsule and corona radiata in the left cerebral hemisphere, was observed in patients compared with controls (P < 0.05). Mean diffusivity differences were observed within the left cerebellar hemisphere and the white matter of the superior lobule of the right cerebellar hemisphere (P < 0.05). Cerebellum‐localized gray matter changes are seen in young ataxia telangiectasia patients along with white matter tract degeneration projecting from the cerebellum into corticomotor regions. The lack of cortical involvement may reflect early‐stage white matter motor pathway degeneration within young patients. © 2014 International Parkinson and Movement Disorder Society

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A Case of Ataxia-Telangiectasia With Lesions in the Spinal Cord

Cited by 26 publications

References 16 publications

Progressive Peripheral Neuron Degeneration In Ataxia‐Telangiectasia: An Electrophysiological Study In Children

Progressive Peripheral Neuron Degeneration In Ataxia‐Telangiectasia: An Electrophysiological Study In Children

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

Altered corticomotor‐cerebellar integrity in young ataxia telangiectasia patients

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