Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis

Background: Multiple sclerosis (MS) is a demyelinating neurodegenerative disease affecting the central nervous system (CNS). While most cases are sporadic, familial MS (FMS) constitutes approximately 12.6% of the MS population and is characterized by affected family members. This study aims to inves...

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Main Authors: Kamal AmirAshjei Asalemi, Alia Saberi, Amirreza Ghayeghran, Sima Fallah Arzpeyma, Sharareh Eskandarieh, Mohammad Ali Sahraian, Hamidreza Hatamian, Kasra Sarlak, Negin Ashoori, Nima Broomand Lomer
Format: Article
Language:English
Published: Guilan University of Medical Sciences 2025-01-01
Series:Caspian Journal of Neurological Sciences
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Online Access:http://cjns.gums.ac.ir/article-1-748-en.pdf
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author Kamal AmirAshjei Asalemi
Alia Saberi
Amirreza Ghayeghran
Sima Fallah Arzpeyma
Sharareh Eskandarieh
Mohammad Ali Sahraian
Hamidreza Hatamian
Kasra Sarlak
Negin Ashoori
Nima Broomand Lomer
author_facet Kamal AmirAshjei Asalemi
Alia Saberi
Amirreza Ghayeghran
Sima Fallah Arzpeyma
Sharareh Eskandarieh
Mohammad Ali Sahraian
Hamidreza Hatamian
Kasra Sarlak
Negin Ashoori
Nima Broomand Lomer
author_sort Kamal AmirAshjei Asalemi
collection DOAJ
description Background: Multiple sclerosis (MS) is a demyelinating neurodegenerative disease affecting the central nervous system (CNS). While most cases are sporadic, familial MS (FMS) constitutes approximately 12.6% of the MS population and is characterized by affected family members. This study aims to investigate the difference between clinical and radiological findings of patients with FMS and sporadic MS (SMS) living in Guilan Province, Iran. Materials & Methods: In this cross-sectional study, by evaluating their medical records, we examined 113 patients with SMS and 79 patients with FMS who registered in the nationwide MS registry of Iran (NMSRI)-Guilan. The radiologic data were analyzed using OsiriX software, version 12.0. Results: Compared to the FMS group, the SMS group showed significantly higher age at onset (31.48±9.55 vs 28.92±9.46, P=0.034), higher occurrence of diplopia (29.2% vs 16.4%, P=0.042), higher expanded disability status scale (EDSS) score (2.20±2.61 vs 1.09±2.08, P=0.002), more lesions (31.59±25.36 vs 22.83±17.17, P=0.017), higher frequency of lesions in the periventricular region (98.2% vs 89.8%, P=0.017) and the lower average size of the smallest lesions (4.65±2.57 vs 8.12±8.58, P<0.001). EDSS score showed significant associations with type of MS (SMS or FMS) (β=0.78, P=0.016), onset age (β=0.09, P<0.001) and disease duration (β=0.13, P=0.001). Conclusion: FMS differs from SMS with an earlier onset, predominantly relapsing-remitting phenotype, lower diplopia incidence, lower EDSS scores, fewer periventricular lesions and larger smallest lesions.
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spelling doaj-art-3ee73c968f974966b0eb776ac199a1262025-02-04T11:29:02ZengGuilan University of Medical SciencesCaspian Journal of Neurological Sciences2423-48182025-01-011111727Clinical and Imaging Features of Familial and Sporadic Multiple SclerosisKamal AmirAshjei Asalemi0Alia Saberi1Amirreza Ghayeghran2Sima Fallah Arzpeyma3Sharareh Eskandarieh4Mohammad Ali Sahraian5Hamidreza Hatamian6Kasra Sarlak7Negin Ashoori8Nima Broomand Lomer9 Department of Neurology, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Neurosciences Research Center, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Neurosciences Research Center, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Department of Radiology, School of Medicine, Poursina Hospital, Guilan University of Medical Sciences, Rasht, Iran. Neuroscience Institute, Multiple Sclerosis Research Center, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran. Neuroscience Institute, Multiple Sclerosis Research Center, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran. Neurosciences Research Center, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Department of Neurology, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Department of Neurology, Faculty of Medicine, Ardabil Branch, Islamic Azad University, Ardabil, Iran. Department of Neurology, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Background: Multiple sclerosis (MS) is a demyelinating neurodegenerative disease affecting the central nervous system (CNS). While most cases are sporadic, familial MS (FMS) constitutes approximately 12.6% of the MS population and is characterized by affected family members. This study aims to investigate the difference between clinical and radiological findings of patients with FMS and sporadic MS (SMS) living in Guilan Province, Iran. Materials & Methods: In this cross-sectional study, by evaluating their medical records, we examined 113 patients with SMS and 79 patients with FMS who registered in the nationwide MS registry of Iran (NMSRI)-Guilan. The radiologic data were analyzed using OsiriX software, version 12.0. Results: Compared to the FMS group, the SMS group showed significantly higher age at onset (31.48±9.55 vs 28.92±9.46, P=0.034), higher occurrence of diplopia (29.2% vs 16.4%, P=0.042), higher expanded disability status scale (EDSS) score (2.20±2.61 vs 1.09±2.08, P=0.002), more lesions (31.59±25.36 vs 22.83±17.17, P=0.017), higher frequency of lesions in the periventricular region (98.2% vs 89.8%, P=0.017) and the lower average size of the smallest lesions (4.65±2.57 vs 8.12±8.58, P<0.001). EDSS score showed significant associations with type of MS (SMS or FMS) (β=0.78, P=0.016), onset age (β=0.09, P<0.001) and disease duration (β=0.13, P=0.001). Conclusion: FMS differs from SMS with an earlier onset, predominantly relapsing-remitting phenotype, lower diplopia incidence, lower EDSS scores, fewer periventricular lesions and larger smallest lesions.http://cjns.gums.ac.ir/article-1-748-en.pdfmultiple sclerosismagnetic resonance imagingrelapsing-remittingdisability evaluation​​​​​​​
spellingShingle Kamal AmirAshjei Asalemi
Alia Saberi
Amirreza Ghayeghran
Sima Fallah Arzpeyma
Sharareh Eskandarieh
Mohammad Ali Sahraian
Hamidreza Hatamian
Kasra Sarlak
Negin Ashoori
Nima Broomand Lomer
Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
Caspian Journal of Neurological Sciences
multiple sclerosis
magnetic resonance imaging
relapsing-remitting
disability evaluation​​​​​​​
title Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
title_full Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
title_fullStr Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
title_full_unstemmed Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
title_short Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
title_sort clinical and imaging features of familial and sporadic multiple sclerosis
topic multiple sclerosis
magnetic resonance imaging
relapsing-remitting
disability evaluation​​​​​​​
url http://cjns.gums.ac.ir/article-1-748-en.pdf
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