Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.

Annals of clinical and translational neurology 2020 Nov

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We describe an Italian family with adult-onset pure hereditary spastic paraplegia due to biallelic variants in POLR3A gene [c.1909 + 22G > A and c.3839dupT (p.M1280fs*20]. MRI showed a mild hyperintensity of superior cerebellar peduncles and cervical spinal cord atrophy. The neurophysiological metrics about intracortical excitability showed higher values of motor thresholds and a significant reduction of short interval intracortical inhibition (SICI) in the patient with a more severe phenotype. Our multimodal evaluation further expands the wide phenotypic spectrum associated with mutations in the POLR3A gene. An extensive genotype-phenotype correlation study is necessary to explain the role of the many new mutations on the function of protein. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Citation

Lucia Ruggiero, Aniello Iovino, Raffaele Dubbioso, Sirio Cocozza, Rosanna Trovato, Francesco Aruta, Giuseppe Pontillo, Melissa Barghigiani, Arturo Brunetti, Filippo Maria Santorelli, Fiore Manganelli, Rosa Iodice. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations. Annals of clinical and translational neurology. 2020 Nov;7(11):2326-2331