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Definite familial multiple system atrophy with unknown genetics
Author(s) -
Itoh Kyoko,
Kasai Takashi,
Tsuji Yukiko,
Saito Kozo,
Mizuta Ikuko,
Harada Yoshinori,
Sudoh Shinji,
Mizuno Toshiki,
Nakagawa Masanori,
Fushiki Shinji
Publication year - 2014
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12092
Subject(s) - neuropathology , parkinsonism , atrophy , pathology , pedigree chart , autopsy , biology , neuroscience , medicine , genetics , gene , disease
Multiple system atrophy ( MSA ) is an oligodendrogliopathy of presumably sporadic origin, characterized by prominent α‐synuclein inclusions with neuronal multisystem degeneration, although a few M endelian 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.