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Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1)

Crossref DOI link: https://doi.org/10.1007/s11033-024-10085-8

Published Online: 2024-11-22

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ahmad, Riaz

Sayyad, Filza

Naeem, Muhammad

Houlden, Henry
Funding

Funding for this research was provided by:

Higher Education Commission, Pakistan (IRSIP 52 BMS 22)
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Text and Data Mining valid from 2024-11-22

Version of Record valid from 2024-11-22
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Article History

Received: 27 August 2024

Accepted: 31 October 2024

First Online: 22 November 2024

Declarations

:

: The authors declare no competing interests.

: The study was approved by the Institutional Review Board of Quaid-i-Azam University Islamabad (QAU/IRB/505).

: Informed consent was obtained from the enrolled family to participate in the study.

: Informed consent was obtained from the enrolled families to allow publication of the clinical and diagnostic information collected in the study.

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