Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

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Bibliographic Details
Published inNeurology Vol. 74; no. 14; p. 1152
Main Authors Terracciano, A, Foulds, N C, Ditchfield, A, Bunyan, D J, Crolla, J A, Huang, S, Santorelli, F M, Hammans, S R
Format Journal Article
LanguageEnglish
Published United States 06.04.2010
Subjects
Adult
Atrophy - genetics
Atrophy - pathology
Brain Stem - pathology
Brain Stem - physiopathology
Cerebellum - metabolism
Cerebellum - pathology
Cerebellum - physiopathology
Diagnosis, Differential
DNA Mutational Analysis
Female
Genes, Dominant - genetics
Genes, Recessive - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing
Genotype
Heat-Shock Proteins - genetics
Humans
Inheritance Patterns - genetics
Magnetic Resonance Imaging
Male
Multiple Sclerosis - genetics
Muscle Spasticity - genetics
Muscle Spasticity - physiopathology
Mutation - genetics
Nerve Fibers, Myelinated - pathology
Pedigree
Phenotype
Spinocerebellar Degenerations - genetics
Spinocerebellar Degenerations - physiopathology
Young Adult
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ISSN:1526-632X
DOI:10.1212/wnl.0b013e3181d7d8a0