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DOI 10.1002/acn3.51679

Медицинская библиотека · Annals of clinical and translational neurology · 2022

Phenotypic continuum of NFU1-related disorders.

Kaiyrzhanov Rauan, Zaki Maha S, Lau Tracy, Sen Sambuddha, Azizimalamiri Reza, Zamani Mina, Sayin Gözde Yeşil, Hilander Taru, Efthymiou Stephanie, Chelban Viorica, Brown Ruth, Thompson Kyle, Scarano Maria Irene, Ganesh Jaya, Koneev Kairgali, Gülaçar Ismail Musab, Person Richard, Sadykova Dinara, Maidyrov Yerdan, Seifi Tahereh, Zadagali Aizhan, Bernard Geneviève, Allis Katrina, Elloumi Houda Zghal, Lindy Amanda, Taghiabadi Ehsan, Verma Sumit, Logan Rachel, Kirmse Brian, Bai Renkui, Khalaf Shaimaa M, Abdel-Hamid Mohamed S, Sedaghat Alireza, Shariati Gholamreza, Issa Mahmoud, Zeighami Jawaher, Elbendary Hasnaa M, Brown Garry, Taylor Robert W, Galehdari Hamid, Gleeson Joseph J, Carroll Christopher J, Cowan James A, Moreno-De-Luca Andres, Houlden Henry, Maroofian Reza

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Аннотация

Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging. The study suggests that MMDS1 and HSP could be the two ends of the NFU1-related phenotypic continuum.

Для цитирования: Kaiyrzhanov Rauan, Zaki Maha S, Lau Tracy, Sen Sambuddha, Azizimalamiri Reza, Zamani Mina, Sayin Gözde Yeşil, Hilander Taru, Efthymiou Stephanie, Chelban Viorica, Brown Ruth, Thompson Kyle, Scarano Maria Irene, Ganesh Jaya, Koneev Kairgali, Gülaçar Ismail Musab, Person Richard, Sadykova Dinara, Maidyrov Yerdan, Seifi Tahereh, Zadagali Aizhan, Bernard Geneviève, Allis Katrina, Elloumi Houda Zghal, Lindy Amanda, Taghiabadi Ehsan, Verma Sumit, Logan Rachel, Kirmse Brian, Bai Renkui, Khalaf Shaimaa M, Abdel-Hamid Mohamed S, Sedaghat Alireza, Shariati Gholamreza, Issa Mahmoud, Zeighami Jawaher, Elbendary Hasnaa M, Brown Garry, Taylor Robert W, Galehdari Hamid, Gleeson Joseph J, Carroll Christopher J, Cowan James A, Moreno-De-Luca Andres, Houlden Henry, Maroofian Reza. Phenotypic continuum of NFU1-related disorders.. Annals of clinical and translational neurology. 2022. DOI: 10.1002/acn3.51679.

Предметные рубрики MeSH

HumansPhenotypeSpastic Paraplegia, HereditaryMutation, MissenseAllelesIronCarrier Proteins
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