Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

Keyphrases

• Hereditary Spastic Paraplegia 100%
• Genotype-phenotype Correlation 100%
• Clinical Heterogeneity 100%
• SPG11 100%
• Spatacsin 100%
• Thin Corpus Callosum 50%
• Autosomal Recessive Hereditary Spastic Paraplegia 50%
• Proband 33%
• Severe Disease 16%
• Mechanism of Action 16%
• Homozygous Nonsense mutation 16%
• Corpus Callosum 16%
• Phenotypic Effects 16%
• Compound Heterozygous mutation 16%
• Novel mutation 16%
• Genotype-phenotype 16%
• Severe Phenotype 16%
• Asian Ethnicity 16%
• Very Severe 16%
• Coding Exons 16%

Biochemistry, Genetics and Molecular Biology

• SPG11 100%
• Genotype-Phenotype Correlation 100%
• Autosomal Recessive Inheritance 50%
• Proband 33%
• Exon 16%
• Genotyping 16%
• Nonsense Mutation 16%
• Genotype Phenotype Correlation 16%