Hereditary spastic paraplegia type 68 (SPG68)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary spastic paraplegia type 68 (SPG68). This is caused by mutations in the FLRT1 gene on chromosome 11q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the FLRT1 gene on chromosome 11q
- The transmission is autosomal recessive
Clinical features
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Synonym
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References
- Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511.
- Melo US, Macedo-Souza LI, Figueiredo T, et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet 2015; 24:6877-6885.
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