title: Definite familial multiple system atrophy with unknown genetics.
abstract: Multiple system atrophy (MSA) is an oligodendrogliopathy of presumably sporadic origin, characterized by prominent α-synuclein inclusions with neuronal multisystem degeneration, although a few Mendelian pedigrees have been reported. Here we report two familial cases of MSA of unknown genetic background. One patient was diagnosed as a possible MSA-C (cerebellar dysfuntion) case, and the other as clinically possible MSA-P (parkinsonism), which turned out to be definite MSA, based on a detailed autopsy. The neuropathology showed extensive deposition of α-synuclein in the glia as well as in the neurons located in the cerebral cortices and hippocampal systems, although neither multiplication of the SNCA gene or mutations in COQ2 gene were identified in the family concerned.
authors.affiliation: Department of Pathology & Applied Neurobiology, Graduate School of Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Itoh
authors.forename: Takashi
authors.initials: T
authors.lastname: Kasai
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Tsuji
authors.forename: Kozo
authors.initials: K
authors.lastname: Saito
authors.forename: Ikuko
authors.initials: I
authors.lastname: Mizuta
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Harada
authors.forename: Shinji
authors.initials: S
authors.lastname: Sudoh
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Shinji
authors.initials: S
authors.lastname: Fushiki
mesh_terms: D000368:Aged; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D019578:Multiple System Atrophy / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree
keywords: COQ2; SNCA; glial cytoplasmic inclusion; multiple system atrophy (MSA); α-synuclein