Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Abstract excerpt

Hereditary spastic paraplegia type 4 (SPG4) is a neurodegenerative disorder with variable age of onset and severity. We report a patient with early-onset SPG4 resulting from compound heterozygosity for a full-gene SPAST deletion and partial DPY30 loss, together with the hemizygous NM_014946.6(SPAST):c.131 C > T p.(Ser44Leu) variant. Western blot showed a similar reduction in the M87 spastin isoform in all...

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