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Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management

Crossref DOI link: https://doi.org/10.1186/s40246-026-00914-1

Published Online: 2026-02-11

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

Authors

Yousaf, Hammad

Ali, Sajid

Moulvi, Ahad Yousuf

Khalid, Lubaba Bintee

Javed, Iram

Ghumman, Rafia Zafar

Colson, Cindy

Ibrahim, Shahnaz

Zia, Salma

Khan, Muhammad Musawer

Brunelle, Perrine

Trujillo-Quintero, Juan Pablo

Ruiz, Anna

Kirmani, Salman

Houlden, Henry

Toft, Mathias

Fatima, Ambrin

Iqbal, Zafar
Funding

Funding for this research was provided by:

University of Oslo
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Text and Data Mining valid from 2026-02-11

Version of Record valid from 2026-03-17
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Article History

Received: 6 August 2025

Accepted: 7 January 2026

First Online: 11 February 2026

Declarations

:

: This study was performed in line with the principles of the Declaration of Helsinki. Ethical approval for this study was granted by the Institutional Review Board of respective collaborating institutes. Informed consent was obtained from all participants or their legal guardians for participation.

: Written informed consent to publish clinical data was obtained from the patients or their legal guardians.

: The authors declare no competing interests.

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