Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants
- 12 May 2020
- journal article
- editorial
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 94 (19), e2074-e2075
- https://doi.org/10.1212/wnl.0000000000009409
Abstract
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). 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 disorders(1) 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.This publication has 2 references indexed in Scilit:
- Expanded phenotype in a patient with spastic paraplegia 7Clinical Case Reports, 2017
- Clinical spectrum and physiology of palatal tremorMovement Disorders, 2002