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Updated: Jul 14, 2026
Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
Published on: February 9, 2020
Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)
P Leema Reddy1, William K Seltzer, Raji P Grewal
1New Jersey Neuroscience Institute, JFK Medical Center, Edison, New Jersey 08820, USA.
Objective:
We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein. We hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for the anticipation.
Methods:
Clinical and genetic analysis of this family and the deletion mutation.
Results:
In this family, the age of onset, which ranges from 3 to 50 years shows an average decrease in the age of onset of 21.8 years per transmission over three generations. Genetic analysis of multiple family members indicates that all affected members carry the same c.1340_1344delTATAA mutation and that it is not dynamic.
Conclusion:
In this family, other molecular mechanisms may contribute to development of anticipation.
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