Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy
Multiple-System Atrophy Research … - New England Journal …, 2013 - Mass Medical Soc
Background Multiple-system atrophy is an intractable neurodegenerative disease
characterized by autonomic failure in addition to various combinations of parkinsonism,
cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely
considered to be a nongenetic disorder, we previously identified multiplex families with this
disease, which indicates the involvement of genetic components. Methods In combination
with linkage analysis, we performed whole-genome sequencing of a sample obtained from a …
characterized by autonomic failure in addition to various combinations of parkinsonism,
cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely
considered to be a nongenetic disorder, we previously identified multiplex families with this
disease, which indicates the involvement of genetic components. Methods In combination
with linkage analysis, we performed whole-genome sequencing of a sample obtained from a …
Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration
BACKGROUND: Multiple-system atrophy is an intractable neurodegenerative disease
characterized by autonomic failure in addition to various combinations of parkinsonism,
cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely
considered to be a nongenetic disorder, we previously identified multiplex families with this
disease, which indicates the involvement of genetic components. METHODS: In combination
with linkage analysis, we performed whole-genome sequencing of a sample obtained from a …
characterized by autonomic failure in addition to various combinations of parkinsonism,
cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely
considered to be a nongenetic disorder, we previously identified multiplex families with this
disease, which indicates the involvement of genetic components. METHODS: In combination
with linkage analysis, we performed whole-genome sequencing of a sample obtained from a …