Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants

A 58-year-old woman presented with a 30-year history of progressive ataxia, dysarthria, and\r\nbilateral leg spasticity. Neurologic examination revealed involuntary movement of the uvula\r\nand soft palate at 2–3 Hz (video). Brain MRI showed only cerebellar atrophy (figure).\r\nTargeted next-generation sequencing identified a pathogenic homozygous variant in the\r\nSPG7 gene (c.773_774delTG; p.V258Gfs*30) leading to the diagnosis of spastic paraplegia\r\ntype 7. Palatal tremor may be present in a variety of acquired or familial disorders1 such as\r\ncerebrotendinous xanthomatosis, SCA20, POLG-related disorders, neuroferritinopathy, and\r\nAlexander disease, but it was reported in only one patient with SPG7 mutations.2 Our\r\nobservation confirms that SPG7 screening should be considered in patients with palatal\r\ntremor and ataxia.