PriscillaKS
New member
- Joined
- Dec 5, 2020
- Messages
- 4
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
- State
- WA
- City
- Seattle
Hello,
I started showing signs (in the forms of light twitching and fasciculations) which was a red flag of ALS since, my father pasted of ALS in the early 80’s. The first genetic testing was looking for SOD1, and that was negative . Next we did a full panel, and those results showed a TBK1 gene for a sequence variant designated c.1717C>T, which is predicted to result in the amino acid substitution p.Arg573Cys. The c.1717C>T variant has been reported in one individual with sporadic frontotemporal dementia and was interpreted as uncertain (Ramos et al. 2020. PubMed ID: 31914217). At this time, the this variant is uncertain due to the absence of conclusive EMG and genetic evidence.
Currently, we are waiting on the RNA sequencing to determine if this c.1717C>T is pathologic.
Something to else to notemy Aunt passed with early onset dementia.
My question is. Has anyone heard of this sequencing, and or gene.
I love the forum. Thank you.
Priscilla
I started showing signs (in the forms of light twitching and fasciculations) which was a red flag of ALS since, my father pasted of ALS in the early 80’s. The first genetic testing was looking for SOD1, and that was negative . Next we did a full panel, and those results showed a TBK1 gene for a sequence variant designated c.1717C>T, which is predicted to result in the amino acid substitution p.Arg573Cys. The c.1717C>T variant has been reported in one individual with sporadic frontotemporal dementia and was interpreted as uncertain (Ramos et al. 2020. PubMed ID: 31914217). At this time, the this variant is uncertain due to the absence of conclusive EMG and genetic evidence.
Currently, we are waiting on the RNA sequencing to determine if this c.1717C>T is pathologic.
Something to else to notemy Aunt passed with early onset dementia.
My question is. Has anyone heard of this sequencing, and or gene.
I love the forum. Thank you.
Priscilla