A 58-year-old woman presented with a 30-year history of progressive ataxia, dysarthria, and bilateral leg spasticity. Neurologic examination revealed involuntary movement of the uvula and soft palate at 2–3 Hz (video 1). Brain MRI showed only cerebellar atrophy (figure). Targeted next-generation sequencing identified a pathogenic homozygous variant in the SPG7 gene (c.773_774delTG; p.V258Gfs*30) leading to the diagnosis of spastic paraplegia type 7. Palatal tremor may be present in a variety of acquired or familial disorders1 such as cerebrotendinous xanthomatosis, SCA20, POLG-related disorders, neuroferritinopathy, and Alexander disease, but it was reported in only one patient with SPG7 mutations.2 Our observation confirms that SPG7 screening should be considered in patients with palatal tremor and ataxia.
Video 1
Palatal tremor in a 58-year-old woman with progressive ataxia and cerebellar degeneration associated with SPG7 gene variant.Download Supplementary Video 1 via http://dx.doi.org/10.1212/009409_Video_1
(A) Sagittal and (B) axial T2-weighted images show cerebellar atrophy but not enlarged olives.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Acknowledgment
G.P and S.S. received support for activities related to this work from the ERN EURO-NMD.
Appendix Authors
Footnotes
Go to Neurology.org/N for full disclosures.
Teaching slides links.lww.com/WNL/B82
- © 2020 American Academy of Neurology
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
