Grant: Operating Grant
Centre hospitalier de l'Université de Montréal (CHUM)
$323,988.00
Investigating the role of mutated UFM1 in a recessive late-onset cerebellar ataxia (LOCA) that often evolves into a multiple system atrophy of cerebellar subtype (MSA-C)
FY 2008-09
Summary
Late-onset ataxias have largely been considered as either milder forms of dominant ataxias or sporadic diseases seemingly not caused by genetic factors. Their prevalence is unknown, but together they are poorly recognized cause of decreased mobility in aging. Recruitment over the last two years has led to our present cohort of 34 families which includes 58 definitive cases. The major clinical feature is the onset during the six and seventh decades (mean: 60.4) of gait ataxia in individuals with previously normal motor performance. The mode of transmission is clearly recessive. A genome-wide scan combined to further genotyping in 11 families uncovered the original locus (multipoint LOD score 5.18). Sequencing of the ubiquitin-fold modifier 1 (UFM1) gene uncovered seven mutations. This application proposes to better describe this condition, its overlap with Multiple System Atrophy and establish how UFM1 mutations lead to neurodegeneration.
Department
Program
Operating Grant
Location
Quebec, Canada
Recipient Type
Not-for-profit organization or charity
Type
Grant
Source
CIHR Funding Decisions Database
As published
Id
172390
Name
Brais Bernard
Region
Québec
Country
Canada
Orgtype
Institution Paid; Research Institution
Instname2
Neurosciences, Mental Health and Addiction
Theme2
Biomedical
Prcname2
Systems & Circuits Neurosciences - A
Projecttitle
Investigating the role of mutated UFM1 in a recessive late-onset cerebellar ataxia (LOCA) that often evolves into a multiple system atrophy of cerebellar subtype (MSA-C)
Programtype2
Operating Grants
Orgnameinp2
Centre hospitalier de l'Université de Montréal (CHUM)
Cihramount2
$323,988
Cihrequipment2
$0
Programname2
Operating Grant
Keyworddelim
Ataxia; Cerebellum; Gene; Multiple System Atrophy; Neurodegeneration; Positional Cloning
Abstract
Late-onset ataxias have largely been considered as either milder forms of dominant ataxias or sporadic diseases seemingly not caused by genetic factors. Their prevalence is unknown, but together they are poorly recognized cause of decreased mobility in aging. Recruitment over the last two years has led to our present cohort of 34 families which includes 58 definitive cases. The major clinical feature is the onset during the six and seventh decades (mean: 60.4) of gait ataxia in individuals with previously normal motor performance. The mode of transmission is clearly recessive. A genome-wide scan combined to further genotyping in 11 families uncovered the original locus (multipoint LOD score 5.18). Sequencing of the ubiquitin-fold modifier 1 (UFM1) gene uncovered seven mutations. This application proposes to better describe this condition, its overlap with Multiple System Atrophy and establish how UFM1 mutations lead to neurodegeneration.
Competitiondate
200809
Approvedterm2
3 yrs 0 mth
Pinamesdelim
Brais, Bernard
Approvedterm
3 ans 0 mois
Cihrcontribution2
~ $323,988~ $0~
