Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra-Reference-Cited by-同舟云学术

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra

Published:2022-06-22 Issue: Volume: Page:
ISSN:1473-4230
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Ashrafi Mahmoud Reza,Mohammadi Pouria^ORCID,Tavasoli Ali Reza,Heidari Morteza,Hosseinpour Sareh,Rasulinejad Maryam,Rohani Mohammad,Akbari Masoud Ghahvechi,Malamiri Reza Azizi,Badv Reza Shervin,Fathi Davood,Dehnavi Ali Zare,Savad Shahram,Rabbani Ali,Synofzik Matthis,Mahdieh Nejat^ORCID,Rezaei Zahra

Funder

National Institute for Medical Research Development

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12311-022-01430-3.pdf

Reference27 articles.

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2. Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013;8(1):1–13.

3. Synofzik M, Nemeth AH. Recessive ataxias. Handb Clin Neurol. 2018;155:73–89.

4. Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, et al. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. J Mol Neurosci. 2020;70(1):131–41.

5. Habibzadeh P, Tabatabaei Z, Inaloo S, Nashatizadeh MM, Synofzik M, Ostovan VR, et al. Case report: expanding the genetic and phenotypic spectrum of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Front Genet. 2020;11:585136.

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