Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
21
07
2020
revised:
29
08
2020
accepted:
17
09
2020
pubmed:
22
10
2020
medline:
25
9
2021
entrez:
21
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33085208
doi: 10.1002/acn3.51221
pmc: PMC7664249
doi:
Substances chimiques
POLR3A protein, human
EC 2.7.7.6
RNA Polymerase III
EC 2.7.7.6
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2326-2331Informations de copyright
© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
Ann Clin Transl Neurol. 2020 Apr;7(4):595-601
pubmed: 32237276
Eur J Neurol. 2020 Mar;27(3):498-505
pubmed: 31571321
Front Neurol. 2019 Sep 18;10:967
pubmed: 31620065
Neurogenetics. 2020 Apr;21(2):121-133
pubmed: 31940116
Neurol Sci. 2020 Mar;41(3):679-685
pubmed: 31773358
J Neurol. 2020 Feb;267(2):324-330
pubmed: 31637490
Brain. 2017 Jun 1;140(6):1561-1578
pubmed: 28459997
J Neurol Sci. 2016 Jun 15;365:143-6
pubmed: 27206893
Ann Neurol. 2020 May;87(5):763-773
pubmed: 32129908
Neurology. 2006 Aug 8;67(3):430-4
pubmed: 16894103
Am J Hum Genet. 2011 Nov 11;89(5):644-51
pubmed: 22036171
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
JAMA Neurol. 2018 May 1;75(5):557-565
pubmed: 29435569
Am J Med Genet A. 2020 Jul;182(7):1776-1779
pubmed: 32319736
Am J Hum Genet. 2011 Sep 9;89(3):415-23
pubmed: 21855841
Brain. 2019 Apr 1;142(4):e12
pubmed: 30847471
Clin Neurophysiol. 2011 Apr;122(4):819-22
pubmed: 21111673