Abstract
Background Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction. Objective The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON. Methods A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed. Results All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a signi ficantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3). Conclusions A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female in fluence on the radiological appearance as well as clinical development of MS in patients with LHON.
| Original language | English |
|---|---|
| Pages (from-to) | 537-542 |
| Number of pages | 6 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 86 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 1 2015 |
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ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Surgery
- Arts and Humanities (miscellaneous)
Cite this
MRI in Leber's hereditary optic neuropathy : The relationship to multiple sclerosis. / Matthews, Lucy; Enzinger, Christian; Fazekas, Franz; Rovira, Alex; Ciccarelli, Olga; Dotti, Maria Teresa; Filippi, Massimo; Frederiksen, Jette L.; Giorgio, Antonio; Küker, Wilhelm; Lukas, Carsten; Rocca, Maria A.; De Stefano, Nicola; Toosy, Ahmed; Yousry, Tarek; Palace, Jacqueline.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 86, No. 5, 01.05.2015, p. 537-542.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - MRI in Leber's hereditary optic neuropathy
T2 - The relationship to multiple sclerosis
AU - Matthews, Lucy
AU - Enzinger, Christian
AU - Fazekas, Franz
AU - Rovira, Alex
AU - Ciccarelli, Olga
AU - Dotti, Maria Teresa
AU - Filippi, Massimo
AU - Frederiksen, Jette L.
AU - Giorgio, Antonio
AU - Küker, Wilhelm
AU - Lukas, Carsten
AU - Rocca, Maria A.
AU - De Stefano, Nicola
AU - Toosy, Ahmed
AU - Yousry, Tarek
AU - Palace, Jacqueline
PY - 2015/5/1
Y1 - 2015/5/1
N2 - Background Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction. Objective The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON. Methods A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed. Results All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a signi ficantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3). Conclusions A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female in fluence on the radiological appearance as well as clinical development of MS in patients with LHON.
AB - Background Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction. Objective The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON. Methods A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed. Results All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a signi ficantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3). Conclusions A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female in fluence on the radiological appearance as well as clinical development of MS in patients with LHON.
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UR - http://www.scopus.com/inward/citedby.url?scp=84927589540&partnerID=8YFLogxK
U2 - 10.1136/jnnp-2014-308186
DO - 10.1136/jnnp-2014-308186
M3 - Article
C2 - 25053773
AN - SCOPUS:84927589540
VL - 86
SP - 537
EP - 542
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 5
ER -