SPTAN1-Results of a Caregiver Survey

Background: SPTAN1 variants are thought to affect the scaffolding that protects the axonal segment of neurons as well as neuronal synapses. The SPTAN1 gene is located in the 9q34.11 genomic region and encodes the cytoskeletal protein alpha II spectrin. Epilepsy, encephalopathy, and motor neuropathy are most commonly associated with SPTAN1 variants. Methods: An informed consent and questionnaire were developed in order to gather information from caregivers regarding their family members' SPTAN1 variant. Survey results are summarized descriptively, in order of frequency. Results: The results of a questionnaire filled out by the caregivers of loved ones who have a SPTAN1 mutation are summarized for 25 individuals, 14 males and 11 females, who have the SPTAN1 mutation. Conclusions: The results of this survey mirror those reported by other authors and include epilepsy, intellectual and motor delays, encephalopathy, and motor neuropathy. Additional effects of the SPTAN1 mutation reported here include absent or difficult speech, happy personality, decline in cognitive and motor skills with age, vision and hearing abnormalities, organ and skeletal effects, autoimmune diseases, and weakened immune systems.