Definite familial multiple system atrophy with unknown genetics. Issue 3 (7th January 2014)

• Record Type: Journal Article
• Authors: Itoh, Kyoko; Kasai, Takashi; Tsuji, Yukiko; Saito, Kozo; Mizuta, Ikuko; Harada, Yoshinori; Sudoh, Shinji; Mizuno, Toshiki; Nakagawa, Masanori; Fushiki, Shinji
• Is Part Of: Neuropathology. Volume 34:Issue 3(2014)
• Page Start: 309
• Page End: 313
• Publication Date: 2014-01-07
• Subjects: Nervous system -- Diseases -- Periodicals; Nervous system -- Pathophysiology -- Periodicals; 616.8047
• DOI: 10.1111/neup.12092
• Languages: English
• ISSNs: 0919-6544

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>SNCA</italic> gene or mutations in <italic>COQ2</italic> gene were identified in the family concerned.</p> </abstract>