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Major Breakthrough Offers Hope for 4H Leukodystrophy Families

Major Breakthrough Offers Hope for 4H Leukodystrophy Families
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

Shanwen liuRon garberStefanie perrierDavida rudkoLama darbelliBenoit coulombeMack michell robinsonChia lun wuTimothye kennedyXiaoru chenBen smithKristinen wattBernard braisMackenziea michell robinsonDaryan chitsazVladimir grouza

MUHC doctors reach breakthrough against rare disease

Leukodystrophies are rare but deadly diseases affecting about one child in 4,700.

New yorkUnited statesSusan schwartzRenaud tardifXavier bartheBernard braisAugust jasminCanadian institutes of health researchPostmedia network incChild healthMontreal gazetteHuman development programMontreal children hospital foundationCentre for pediatric simulationMcgill universityNyaya foundation

Research team creates first representative animal model of 4H leukodystrophy

Research team creates first representative animal model of 4H leukodystrophy
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Mackenziea michell robinsonBernard braisRon garberBen smithMack michell robinsonChild healthHuman development programMcgill university health centerDepartment of neurologyMontreal children hospital foundationMcgill universityNyaya foundationMcgill university healthResearch instituteMontreal children

Team pinpoints genetic cause of late-onset ataxia

Researchers have discovered a previously unknown genetic cause of the neurodegenerative disease late-onset cerebellar ataxia.

United statesUnited kingdomWestern australiaCity ofBernard braisHospital foundationHospital of mcgill universityNeuro montreal neurological instituteUniversity of miami miller school medicineMontreal neurological institute hospitalMcgill universityMiller schoolNew england journalFondation groupe monacoMontreal general hospital

NEJM study: Hidden genetic anomaly behind common late-onset cerebellar ataxia

Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement.

United statesMiller schoolBernard braisDavid pellerinMatt danziEmily hendersonJohnp hussman institute for human genomicsRare neurological diseases group at mcgill universityMcgill universityMiller school of medicineUniversity of miami miller school medicineMiami miller schoolDeep intronicLate onset cerebellar ataxiaNew england journalHuman genomics