title: Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.
abstract: 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.
authors.affiliation: Department of Pathology, Brain Research Institute, University of Niigata, Niigata, Japan. ksakai@med.kanazawa-u.ac.jp
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakai
authors.forename: Mari
authors.initials: M
authors.lastname: Tada
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Yonemochi
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakajima
authors.forename: Osamu
authors.initials: O
authors.lastname: Onodera
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takahashi
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Kakita
mesh_terms: D000328:Adult; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013132:Spinocerebellar Degenerations / Q000150:complications / Q000235:genetics / Q000473:pathology*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins