Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology

L. Ruggiero; A. Iovino; R. Dubbioso; S. Cocozza; R. Trovato; F. Aruta; G. Pontillo; M. Barghigiani; A. Brunetti; F.M. Santorelli; F. Manganelli; R. Iodice

doi:10.1002/acn3.51221

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology

L. Ruggiero, A. Iovino, R. Dubbioso, S. Cocozza, R. Trovato, F. Aruta, G. Pontillo, M. Barghigiani, A. Brunetti, F.M. Santorelli, F. Manganelli, R. Iodice

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

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

Original language	English
Pages (from-to)	2326-2331
Number of pages	6
Journal	Ann. Clin. Transl. Neurol.
Volume	7
Issue number	11
DOIs	https://doi.org/10.1002/acn3.51221
Publication status	Published - 2020

Keywords

adult
aged
Article
auditory evoked potential
case report
central motor conduction time
cerebellar peduncle
cervical spinal cord
clinical article
evoked brain stem auditory response
excitability
female
gait
gene
gene mutation
genotype
genotype phenotype correlation
hereditary motor sensory neuropathy
high throughput sequencing
human
long interval intracortical inhibition
male
middle aged
motor evoked potential
nerve conduction
nervous system electrophysiology
neurophysiological monitoring
nuclear magnetic resonance imaging
phenotype
POLR3A gene
priority journal
protein function
short interval intracortical inhibition
spastic paraplegia
spastic paraplegia rating scale
spinal cord atrophy
superior cerebellar peduncle
visual evoked potential

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10.1002/acn3.51221

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85092893469&doi=10.1002%2facn3.51221&partnerID=40&md5=d0edac923b717dee77ca333e1e493eb1

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Ruggiero, L., Iovino, A., Dubbioso, R., Cocozza, S., Trovato, R., Aruta, F., Pontillo, G., Barghigiani, M., Brunetti, A., Santorelli, F. M., Manganelli, F., & Iodice, R. (2020). Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology. Ann. Clin. Transl. Neurol., 7(11), 2326-2331. https://doi.org/10.1002/acn3.51221

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations : Annals of Clinical and Translational Neurology. / Ruggiero, L.; Iovino, A.; Dubbioso, R.; Cocozza, S.; Trovato, R.; Aruta, F.; Pontillo, G.; Barghigiani, M.; Brunetti, A.; Santorelli, F.M.; Manganelli, F.; Iodice, R.

In: Ann. Clin. Transl. Neurol., Vol. 7, No. 11, 2020, p. 2326-2331.

Research output: Contribution to journal › Article › peer-review

Ruggiero, L, Iovino, A, Dubbioso, R, Cocozza, S, Trovato, R, Aruta, F, Pontillo, G, Barghigiani, M, Brunetti, A, Santorelli, FM, Manganelli, F & Iodice, R 2020, 'Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology', Ann. Clin. Transl. Neurol., vol. 7, no. 11, pp. 2326-2331. https://doi.org/10.1002/acn3.51221

Ruggiero, L. ; Iovino, A. ; Dubbioso, R. ; Cocozza, S. ; Trovato, R. ; Aruta, F. ; Pontillo, G. ; Barghigiani, M. ; Brunetti, A. ; Santorelli, F.M. ; Manganelli, F. ; Iodice, R. / Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations : Annals of Clinical and Translational Neurology. In: Ann. Clin. Transl. Neurol. 2020 ; Vol. 7, No. 11. pp. 2326-2331.

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abstract = "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. {\textcopyright} 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association",

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T2 - Annals of Clinical and Translational Neurology

AU - Ruggiero, L.

AU - Iovino, A.

AU - Dubbioso, R.

AU - Cocozza, S.

AU - Trovato, R.

AU - Aruta, F.

AU - Pontillo, G.

AU - Barghigiani, M.

AU - Brunetti, A.

AU - Santorelli, F.M.

AU - Manganelli, F.

AU - Iodice, R.

N1 - Export Date: 19 March 2021 Correspondence Address: Ruggiero, L.; Department of Neurosciences, Italy; email: lucia.ruggiero@unina.it

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AB - 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

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ER -

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology

Abstract

Keywords

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