Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex
Corresponding Author
Kenji Sakai
Departments of Pathology,
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Ishikawa, and
Present address: Department of Neurology, Noto General Hospital, 6-4 Fujihashimachi, Nanao, Ishikawa 926-8610, Japan.
Kenji Sakai, MD, PhD, Department of Pathology, Brain Research Institute, University of Niigata, 1 Asahimachi, Chuo-ku, Niigata 951-8585, Japan. Email: [email protected]Search for more papers by this authorYosuke Yonemochi
Department of Neurology, National Hospital Organization, Niigata National Hospital, Niigata, Japan
Search for more papers by this authorTakashi Nakajima
Department of Neurology, National Hospital Organization, Niigata National Hospital, Niigata, Japan
Search for more papers by this authorAkiyoshi Kakita
Departments of Pathology,
Pathology Neuroscience, Brain Research Institute, University of Niigata, Niigata,
Search for more papers by this authorCorresponding Author
Kenji Sakai
Departments of Pathology,
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Ishikawa, and
Present address: Department of Neurology, Noto General Hospital, 6-4 Fujihashimachi, Nanao, Ishikawa 926-8610, Japan.
Kenji Sakai, MD, PhD, Department of Pathology, Brain Research Institute, University of Niigata, 1 Asahimachi, Chuo-ku, Niigata 951-8585, Japan. Email: [email protected]Search for more papers by this authorYosuke Yonemochi
Department of Neurology, National Hospital Organization, Niigata National Hospital, Niigata, Japan
Search for more papers by this authorTakashi Nakajima
Department of Neurology, National Hospital Organization, Niigata National Hospital, Niigata, Japan
Search for more papers by this authorAkiyoshi Kakita
Departments of Pathology,
Pathology Neuroscience, Brain Research Institute, University of Niigata, Niigata,
Search for more papers by this authorAbstract
Marinesco-Sjögren syndrome (MSS) is a progressive multisystem disease with autosomal recessive inheritance characterized by cataracts, mental retardation, and cerebellar ataxia. Recently, two causative genes for MSS, SIL1 and SARA2, have been identified. On the other hand, the histopathologic features of the CNS in this syndrome have not yet been clarified in detail. We report here the features of an autopsy case of MSS with progressive myopathy, in which atrophy of the cerebellum and brain stem tegmentum, retinal degeneration, and dysplastic cytoarchitecture in the cerebral cortex were evident. An elder brother of the patient showed quite similar symptoms, implying an autosomal recessive mode of inheritance. However, we detected no mutations in the available genes. This case appears to represent an unusual example of MSS manifesting widespread developmental anomaly and neuronal degeneration in the CNS.
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