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Research article
Jia Li
China-Japan Union Hospital of Jilin University
Corresponding Author
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Background: Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA), and about 45 pathogenic loci have been found in ADCA. The purpose of this study was to explore the genetic defect in a Chinese family with ADCA. Methods: A three-generation Chinese family with ADCA was enrolled in this study, Exome sequencing was conducted in four family members, including the proband, and verified by Sanger sequencing. Results: The rs779393130 mutation of the CACNA1C gene co-segregated with the ataxia phenotype in this family. The mutation was not detected in 50 unaffected controls. Conclusions: The rs779393130 mutation of CACNA1C may be associated with the phenotype of the disease. The CACNA1C gene encodes the Cav1.2 (alpha-1) subunit of an L-type calcium channel and this subunit may be related to the ADCA phenotype. These findings may have implications for family clinical monitoring and genetic counseling and may also help in understanding pathogenesis of this disease.
Keywords
hereditary ataxia, ADCA, L-type calcium channel, CACNA1C, mutation
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CURRENT STATUS: Published
View the published article at BMC Neurology.
No community comments so far
Submission checks complete
On 06 Nov, 2019
Editor assigned
On 26 Jun, 2019
Editorial decision: Accept
On 26 Jun, 2019
Editor invited
On 25 Jun, 2019
No comments provided
Editorial decision: Minor revision
On 24 Jun, 2019
Submission checks complete
On 23 Jun, 2019
Editor invited
On 23 Jun, 2019
Editor assigned
On 23 Jun, 2019
No comments provided
Editorial decision: Minor revision
On 18 Jun, 2019
Reviewer #1 agreed
On 14 Jun, 2019
Review #1 received
Received 14 Jun, 2019
Reviewers invited
Invitations sent on 11 Jun, 2019
Submission checks complete
On 30 May, 2019
Editor invited
On 30 May, 2019
Editor assigned
On 30 May, 2019
Version 1
Posted 18 Apr, 2019
No comments provided
Review #2 received
Received 27 May, 2019
Editorial decision: Minor revision
On 27 May, 2019
Reviewer #2 agreed
On 13 May, 2019
Review #1 received
Received 28 Apr, 2019
Reviewers invited
Invitations sent on 22 Apr, 2019
Reviewer #1 agreed
On 22 Apr, 2019
Editor invited
On 17 Apr, 2019
Submission checks complete
On 12 Apr, 2019
Editor assigned
On 12 Apr, 2019
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A new preprint design is coming!
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See the published version of this preprint at BMC Neurology.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Jia Li
China-Japan Union Hospital of Jilin University
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at BMC Neurology.
No community comments so far
Submission checks complete
On 06 Nov, 2019
Editor assigned
On 26 Jun, 2019
Editorial decision: Accept
On 26 Jun, 2019
Editor invited
On 25 Jun, 2019
No comments provided
Editorial decision: Minor revision
On 24 Jun, 2019
Submission checks complete
On 23 Jun, 2019
Editor invited
On 23 Jun, 2019
Editor assigned
On 23 Jun, 2019
No comments provided
Editorial decision: Minor revision
On 18 Jun, 2019
Reviewer #1 agreed
On 14 Jun, 2019
Review #1 received
Received 14 Jun, 2019
Reviewers invited
Invitations sent on 11 Jun, 2019
Submission checks complete
On 30 May, 2019
Editor invited
On 30 May, 2019
Editor assigned
On 30 May, 2019
Version 1
Posted 18 Apr, 2019
No comments provided
Review #2 received
Received 27 May, 2019
Editorial decision: Minor revision
On 27 May, 2019
Reviewer #2 agreed
On 13 May, 2019
Review #1 received
Received 28 Apr, 2019
Reviewers invited
Invitations sent on 22 Apr, 2019
Reviewer #1 agreed
On 22 Apr, 2019
Editor invited
On 17 Apr, 2019
Submission checks complete
On 12 Apr, 2019
Editor assigned
On 12 Apr, 2019
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine Specialties
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at BMC Neurology.
Background: Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA), and about 45 pathogenic loci have been found in ADCA. The purpose of this study was to explore the genetic defect in a Chinese family with ADCA. Methods: A three-generation Chinese family with ADCA was enrolled in this study, Exome sequencing was conducted in four family members, including the proband, and verified by Sanger sequencing. Results: The rs779393130 mutation of the CACNA1C gene co-segregated with the ataxia phenotype in this family. The mutation was not detected in 50 unaffected controls. Conclusions: The rs779393130 mutation of CACNA1C may be associated with the phenotype of the disease. The CACNA1C gene encodes the Cav1.2 (alpha-1) subunit of an L-type calcium channel and this subunit may be related to the ADCA phenotype. These findings may have implications for family clinical monitoring and genetic counseling and may also help in understanding pathogenesis of this disease.
Figure 1
Figure 2
Figure 3
Figure 4
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