Nanobodies as tools for studying human frataxin biology

Pignataro, M.F., Fernández, N.B., Garay-Alvarez, A. et al. Nanobodies as tools for studying human frataxin biology. Commun Biol (2026). doi:10.1038/s42003-025-09458-x 

As a whole, our results suggest that nanobodies can serve as binding partners for mitochondrial FXN. However, the specific effect of the nanobodies on the conformational stability of FRDA-related FXN variants in cells should be investigated.

Ataxia with hypertonia and absent deep tendon reflexes (DTRs)

Maddela, Chakradhar. (2026). Ataxia with hypertonia and absent deep tendon reflexes (DTRs) -DD. 10.13140/RG.2.2.12440.66562. 

It is an important localization clue-suggesting central cerebellar involvement with concomitant peripheral neuropathy or dorsal root involvement. Pathophysiologic Pattern • Ataxia → Cerebellar dysfunction • Hypertonia → Central (UMN / extrapyramidal) involvement • Absent DTRs → Peripheral neuropathy / dorsal root ganglion involvement Combined central + peripheral nervous system disease Common & Important Causes 1. Friedreich Ataxia (MOST COMMON) • Onset: 5-15 years • Progressive gait and limb ataxia • Absent DTRs (early) • Extensor plantar, increasing tone later • Sensory loss (proprioception, vibration) • Associated: cardiomyopathy, scoliosis, diabetes • Mechanism: Spinocerebellar + posterior column + peripheral nerve degeneration 2. Ataxia-Telangiectasia (Late Stage) • Early hypotonia → later rigidity / hypertonia • Peripheral neuropathy → absent reflexes • Oculocutaneous telangiectasia • Recurrent sinopulmonary infections • Raised AFP