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 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.
Lingua originale | English |
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pagine (da-a) | e2074-e2075-e2075 |
Rivista | Neurology |
Volume | 94 |
DOI | |
Stato di pubblicazione | Pubblicato - 2020 |
Keywords
- SPG7, , ataxia, palatal myoclonus