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Pathogenic variants in TSPOAP1, encoding RIMBP1, cause ultra-rare autosomal recessive dystonia (DYT-TSPOAP1/DYT-22), with only two reports worldwide. Clinical features include upper-segment-predominant dystonia, intellectual disability, eye movement abnormalities, and cerebellar atrophy. We describe two unrelated patients with adolescent-onset generalized dystonia showing cranio-caudal progression due to novel truncating variants in the TSPOAP1 gene.