Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

Martin KrennG ZulehnerC HotzyJ RathE StogmannM WagnerT B HaackT M StromA ZimprichF Zimprich

Published in: European journal of neurology (2017)

This report provides the first evidence that mutations outside the motor domain of the gene can cause (recessive) SPG30 and extends the genotype-phenotype association for KIF1A-related diseases.

Keyphrases

copy number
genome wide
genome wide identification
early onset
intellectual disability
cerebral palsy
dna methylation
genome wide analysis
botulinum toxin