Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation

MeSH terms

• Amyotrophic Lateral Sclerosis / diagnosis*
• Amyotrophic Lateral Sclerosis / genetics*
• DNA Mutational Analysis
• Female
• Genetic Association Studies
• Genetic Predisposition to Disease
• Humans
• Intellectual Disability / diagnosis*
• Intellectual Disability / genetics*
• Kinesins / genetics*
• Male
• Muscle Spasticity / diagnosis*
• Muscle Spasticity / genetics*
• Mutation*
• Optic Atrophy / diagnosis*
• Optic Atrophy / genetics*
• Pedigree
• Phenotype
• Radiography
• Spastic Paraplegia, Hereditary / diagnosis*
• Spastic Paraplegia, Hereditary / genetics*
• Spinocerebellar Ataxias / diagnosis*
• Spinocerebellar Ataxias / genetics*