Intrathecal upregulation of IFN-γ and MIP-1β in juvenile muscular atrophy of the distal upper extremity

Juvenile muscular atrophy of the distal upper extremity (JMADUE) is associated with airway allergy and hyperIgEaemia, suggesting the involvement of immunological processes. In this study we aimed to clarify the changes in various cytokines/chemokines in cerebrospinal fluid (CSF) from JMADUE patients. We simultaneously measured 17 cytokines/chemokines in sera and CSF from 6 patients with JMADUE before treatment and from 14 patients with cervical spondylosis (CS) as a disease control (mean age at examination 23 ± 7 and. 57 ± 16 years, respectively), using a fluorescent bead-based immunoassay. We also assayed CSF from a JMADUE patient before and after plasma exchanges. In sera, only an increase of MIP-1β (CCL3) in the JMADUE patients had a marginal significance as compared with the CS patients. In the CSF, IFN-γ and MIP-1β (CCL3) were significantly elevated in JMADUE patients compared with controls (1.5 and 2-fold increases, respectively), while no other cytokines/chemokines showed any significant differences. Moreover, the upregulated cytokines decreased after plasma exchanges in accord with improvement of distal upper limb weakness. The intrathecal upregulation of proinflammatory Th1 cytokines/chemokines, such as IFN-γ and MIP-1β (CCL3), in the CSF of JMADUE patients indicates the possible involvement of intrathecal immunological processes in this condition.