دورية أكاديمية
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
| العنوان: | Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. |
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| المؤلفون: | Parkinson MH; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Bartmann AP; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Clayton LMS; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Nethisinghe S; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Pfundt R; Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands., Chapple JP; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK., Reilly MM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK., Manji H; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Wood NJ; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Bremner F; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Giunti P; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. |
| المصدر: | Brain : a journal of neurology [Brain] 2018 Apr 01; Vol. 141 (4), pp. 989-999. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oxford : Oxford University Press Original Publication: London. |
| مواضيع طبية MeSH: | Muscle Spasticity/*diagnostic imaging , Optic Nerve/*diagnostic imaging , Retina/*diagnostic imaging , Spinocerebellar Ataxias/*congenital , Tomography, Optical Coherence/*methods, Adult ; Female ; Heat-Shock Proteins ; Humans ; Male ; Middle Aged ; Muscle Spasticity/genetics ; Mutation/genetics ; Spinocerebellar Ataxias/diagnostic imaging ; Spinocerebellar Ataxias/genetics ; Young Adult |
| مستخلص: | Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation, we assessed 292 individuals (191 patients with ataxia and 101 control subjects) by peripapillary time-domain optical coherence tomography. The patients included 146 with a genetic diagnosis of ataxia (17 autosomal spastic ataxia of Charlevoix-Saguenay, 59 Friedreich's ataxia, 53 spinocerebellar ataxias, 17 other genetically confirmed ataxias) and 45 with cerebellar ataxia of unknown cause. The controls included 13 asymptomatic heterozygotes for SACS mutations and 88 unaffected controls. The cases with autosomal recessive spastic ataxia of Charlevoix-Saguenay included 11 previously unpublished SACS mutations, of which seven were nonsense and four missense mutations. Most patients were visually asymptomatic and had no previous history of ophthalmic complaints and normal or near normal visual test results. None had visual symptoms directly attributable to the retinal changes. Twelve of the 17 cases (70.6%) had thickened retinal nerve fibres visible on fundoscopy. All patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay had thickening of the peripapillary retinal nerve fibre layer on optical coherence tomography, whereas all the remaining cases and controls except one showed normal or reduced average peripapillary retinal nerve fibre layer thickness on optical coherence tomography. We propose a cut-off value of 119 µm in average peripapillary retinal nerve fibre layer thickness, which provides a sensitivity of 100% and specificity of 99.4% amongst patients affected with ataxia. This is the largest cohort of patients with this condition to undergo systematic evaluation by optical coherence tomography. This is a useful tool in identifying cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay from other causes of ataxia. Visualization of thickened retinal fibres by direct fundoscopy is less sensitive. We therefore advocate the use of this technique in the assessment of possible cases of this condition. |
| المشرفين على المادة: | 0 (Heat-Shock Proteins) 0 (SACS protein, human) |
| SCR Disease Name: | Spastic ataxia Charlevoix-Saguenay type |
| تواريخ الأحداث: | Date Created: 20180315 Date Completed: 20190628 Latest Revision: 20190628 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1093/brain/awy028 |
| PMID: | 29538656 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2156 |
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| DOI: | 10.1093/brain/awy028 |