Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.
Terracciano
A
A
Molecular Medicine & Neurosciences, IRCCS Bambino Gesù Hospital, Rome, Italy.
Foulds
N C
NC
Ditchfield
A
A
Bunyan
D J
DJ
Crolla
J A
JA
Huang
S
S
Santorelli
F M
FM
Hammans
S R
SR
D000328:Adult; D001284:Atrophy / Q000235:genetics / Q000473:pathology; D001933:Brain Stem / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics; D009128:Muscle Spasticity / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult
D006360:Heat-Shock Proteins; C404403:SACS protein, human