Features include always present findings: Clonus, Hypoesthesia, Elevated brain choline level by MRS, and Low muscle tone (hypotonia) and others; and very common findings: Hypertonia and Brisk reflexes. 43 total HPO annotations.

NFU1 encodes NFU1 iron-sulfur cluster scaffold (254 aa). Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins Highest expression in Artery Tibial (39.9 TPM) and Adipose Subcutaneous (36.7 TPM).

Spastic paraplegia 93, autosomal recessive is associated with mutations in the NFU1 gene on chromosome 2.

The NFU1 protein participates in LIAS synthesizes lipoyl-GCSH, FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster, and Mitochondrial iron-sulfur cluster biogenesis pathways.

NFU1 is classified as a druggable target with score 0.0.

Genetic testing for NFU1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spastic paraplegia 93, autosomal recessive has been reported in the published literature.

Phenotype severity distribution: 22 always present features, 2 very common features, 6 common features.

No clinical trials have been registered for spastic paraplegia 93, autosomal recessive.

2 publications have been identified in PubMed for spastic paraplegia 93, autosomal recessive. Research spans Diagnostic / Biomarker (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Scaravilli A (2024). [PMID: 38847051](https://pubmed.ncbi.nlm.nih.gov/38847051/). *Mov Disord*. [Diagnostic / Biomarker]

• Beichert L (2024). [PMID: 38847438](https://pubmed.ncbi.nlm.nih.gov/38847438/). *Mov Disord*. [Epidemiology / Natural History]