Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene
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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a heterogeneous group of complicated HSP with intellectual disability, among which SPG11 represents the most frequent subtype .
Disease onset occurs mainly during infancy/adolescence and is usually characterized by progressive spasticity and mental retardation and/or progressive cognitive decline .
KeywordsIntellectual Disability Splice Site Mutation Hereditary Spastic Paraplegia Compound Heterozygous Mutation Missense Change
We thank the patients and their family for their cooperation and participation in the study. We thank C. Baroncini for the English editing. The research was supported by funds from the Italian Ministry of Health (RC2013-2014) and 5X Mille to MTB.
Conflicts of interest
Authors declare no competing interests.
Patients gave their written informed consent to participate to the study. The study was approved by the Ethical Committees of both institutions.