A non-Kennedy SBMA linked to the UBA1 gene

A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1 gene.

• It is therefore distinct from Kennedy’s disease, which is an SBMA linked to the AR gene (the authors speak of non-Kennedy SBMA).
• The UBA1 gene is located on chromosomeForme que prend l’ADN pendant la division cellulaire (aspect de fins bâtonnets). Il est composé de 2 bras, un bras long et un bras court. Par convention, le bras long s’appelle q, et le bras court s’appelle p. Chez l’être humain, il y a 23 paires de chromosomes (soit 46 chromosomes). Vingt-deux paires sont constituées de 2 chromosomes identiques, appelés autosomes. La vingt-troisième paire est constituée des chromosomes sexuels, XX chez la femme et XY chez l’homme. X and is involved in the proteasome/ubiquitin system.
• The UBA1 gene is also responsible for an X-linked form of SMA, XL-SMA, which however starts earlier than non-Kennedy SBMA (onset in childhood and death before the age of two for XL-SMA versus onset in adulthood and normal life expectancy for non-Kennedy SBMA).

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. Khani M, Nafissi S, Shamshiri H et al. Eur J Neurol. 2022 Aug 23.