gallery5Iron-sulfur protein NUBPL (IND1) also known as nucleotide-binding protein-like (NUBPL) is an iron-sulfur (Fe/S) protein that, in humans, is encoded by the NUBPL gene, located on chromosome 14q12. Mutations in the NUBPL gene may cause a rare form of mitochondrial complex I disorder.

Clinical Features
Age of onset: 1-2 years old
Developmental delay: Some patients
Delay: Motor; Unable to walk
Speech: Abnormal (Dysarthria)
Eyes: Strabismus; Nystagmus
Ataxia: Trunk & Limbs
Contractures
Spasticity
Cognitive: Normal or Reduced
Myopathy
Other organs: Normal
Course: Progressive, continuous or episodic

Laboratory Signs
MRI: Leukoencephalopathy with abnormal:
– Cerebellar cortex: Progressive
– Cerebral white matter, deep: May resolve
– Corpus callosum: May resolve
*Please note that although these are characteristic MRI findings, there are others including abnormalities in the grey matter of the cerebellum, as discussed in the blog, Hope for Katherine Belle.
Lactate: Serum normal or high; CSF normal or high
NUBPL protein: Reduced
Muscle biopsy
– Histology: Ragged red fibers; No COX- fibers
– Biochemistry: Complex I deficiency

*Clinical findings as presented by Dr. Virginia Kimonis at The 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada.