Details

Autor(en) / Beteiligte

• The Multiple-System Atrophy Research Collaboration

Titel

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

Ist Teil von

• The New England journal of medicine, 2013-07, Vol.369 (3), p.233-244

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• Multiple-system atrophy is a rare neurodegenerative disease characterized by autonomic failure. Mutations affecting an enzyme essential for the synthesis of coenzyme Q10 confer susceptibility to the disease in some persons. Multiple-system atrophy is a progressive neurodegenerative disease that is clinically characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. The term multiple-system atrophy was introduced in 1969 to encompass the disease entities of olivopontocerebellar ataxia, striatonigral degeneration, and the Shy–Drager syndrome, on the basis of neuropathological findings in these disorders. 1 Multiple-system atrophy is characterized by the development of cytoplasmic aggregates of α-synuclein, primarily in oligodendroglia. 2 – 7 However, the pathogenic mechanisms underlying this disease remain unknown, making it difficult to develop effective therapies. The disorder is classified into two subtypes: subtype C, characterized predominantly . . .