Article
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.
Cerebellum (London, England) - 1 Jun 2024
Capacci Elena, Bagnoli Silvia, Giacomucci Giulia, Rapillo Costanza Maria, Govoni Alessandra, Bessi Valentina, Polito Cristina, Giotti Irene, Brogi Alice, Pelo Elisabetta, Sorbi Sandro, Nacmias Benedetta, Ferrari Camilla
Abstract excerpt
Cerebellar syndromes are clinically and etiologically heterogeneous and can be classified as hereditary, neurodegenerative non-hereditary, or acquired. Few data are available on the frequency of each form in the clinical setting. Growing interest is emerging regarding the genetic forms caused by triplet repeat expansions. Alleles with repeat expansion lower than the pathological threshold, termed intermediate...
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