期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 9, 期 12, 页码 2025-2035出版社
WILEY
DOI: 10.1002/acn3.51679
关键词
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资金
- Spastic Paraplegia Foundation
- Brain Research Trust (BRT)
- UK HSP Society
- Medical Research Council (MRC UK) [MR/J004758/1, G0802760, G1001253]
- Wellcome Trust [104033]
- EU [2012305121]
- Muscular Dystrophy Association (MDA) USA
- Muscular Dystrophy UK
- Rosetrees Trust
- Ataxia UK
- British Neurological Surveillance Unit (BNSU)
- Research Training Fellowship grant from the European Academy of Neurologists
- Association of British Neurologists/MSA Trust Clinical Research Training fellowship [F84 ABN 540868]
- National Institutes of Health [AI072443]
- Fonds de Recherche du Quebec - Sante (FRQS)
- Canadian Institutes of Health Research
- FRQS
- Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health [R01HD104938]
- Wellcome Centre for Mitochondrial Research [203105/Z/16/Z]
- Mitochondrial Disease Patient Cohort (UK) [G0800674]
- Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease [MR/S005021/1]
- Medical Research Council [MR/W019027/1]
- Lily Foundation
- Pathological Society
- UK NIHR Biomedical Research Centre for Aging and Age-related disease award
- UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children
Bi-allelic variants in NFU1 gene can lead to either early-onset hereditary spastic paraplegia (HSP) or multiple mitochondrial dysfunction syndrome 1 (MMDS1).
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.
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