Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report

Conclusions: After an extended differential diagnosis and exclusion of other diseases, a definite diagnosis of the patient ’ s condition presently remains elusive. However, whole-exome sequencing performed from patient ’ s blood revealed 12 potentially disease-causative heterozygous variants, amongst which several have been associated with neurological disorders in vitro and in vivo – in particular the axon degeneration-related NMNAT2 gene.
Source: Journal of Cardiovascular Magnetic Resonance - Category: Radiology Authors: Source Type: research