Seeking advice and knowledge

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PriscillaKS

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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
 

Nikki J

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Where is this sequencing being done and are you working with a geneticist or at least a doctor?

if you have symptoms that are worrying you I think you should be pursuing this clinically. A genetic test will not diagnose you with anything. It only speaks to risk.

here is a list of ALS associated genetic variants and mutations ALSoD
 

PriscillaKS

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Yes, Nikki I am working with a neurologist within Swedish ALS department. The diagnosis was...I am showing signs, but I am not showing loss of muscle.

Thank you.
Priscilla~
 

lgelb

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That's not a diagnosis. Did you have an EMG? Feel free to post the de-identified report.
 
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PriscillaKS

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I did have an EMG, and it was negative. No diagnosis.
 

lgelb

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With light twitching and fasiculations, a negative EMG, seemingly no family history of MND apart from your dad (I'm sorry for your loss), and a single FTD case associated with the gene found, with uncertain causality, the probability of a familial MND seems relatively low. That your aunt had an early dementia is not necessarily related, as you know.

FTD and MND do co-exist in some forms, but much more floridly than the clinical picture that you have described. Even if RNA sequencing suggested that the gene could be pathological, it has not been characterized as such relative to MND.

Best,
Laurie
 

PriscillaKS

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Hmm. Interesting. Thank you.
 
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