Title : Sequential clinical improvement after autologous mesenchymal stem cell therapy in concurrent Huntington's disease and ankylosing spondylitis: A case report
Abstract:
Background: Huntington's disease (HD) is a fatal autosomal-dominant neurodegenerative disorder with no approved disease-modifying therapy. Ankylosing spondylitis (AS) is a chronic systemic spondyloarthropathy causing progressive functional disability. Their co-occurrence in a single patient is exceptionally rare and therapeutically uncharted. Autologous mesenchymal stem cells (MSCs) have been investigated separately in HD and AS models for their neuroprotective and immunomodulatory properties. To our knowledge, no indexed published case documents autologous MSC therapy in a patient carrying both diagnoses concurrently.
Case Presentation: A 35-year-old male (born 1982) presented with confirmed HD debut (family history: affected father) and concurrently diagnosed AS (confirmed jointly with a rheumatologist). Baseline assessment (October 2017): UHDRS motor score 19; BASFI 14; BASDAI 2.0. The patient received autologous bone marrow-derived (~90%) and adipose-derived (~10%) MSCs (SmartCell biotechnology), 50 million cells monthly for three consecutive months (total 150 million MSCs), administered as 50% intravenous plus 50% epidural, each dose preceded by plasmapheresis. Concomitant medication included neuroprotective support (ipidacrine, thiamine/ascorbic acid combination), a dopamine agonist (pramipexole, initiated at month 2 at low dose with gradual titration), and a short-course NSAID (etoricoxib 90 mg, 7 days). Vitamin supplementation (retinol/tocopherol) was maintained throughout. No immunosuppressive or disease-modifying antirheumatic drugs were administered during the observation period.
Results: UHDRS motor score and BASFI demonstrated progressive improvement across all three sequential treatment cycles. BASDAI, which was within a low range at baseline (2.0), showed minor fluctuation before reaching 1.0 at final assessment. Primary clinical gains were observed in motor and functional domains. Follow-up duration covered the active treatment period (October–December 2017); long-term follow-up data are not available for this report. No serious adverse events occurred throughout the treatment course. The treating neurologist documented marked short-term clinical improvement in motor function and physical functioning within two months of initiating therapy.
Conclusion: This case describes substantial short-term improvement in recorded neurological and functional rheumatological outcomes following three sequential administrations of autologous MSCs in a patient with concurrent Huntington's disease and ankylosing spondylitis, without serious adverse events. UHDRS motor score declined from 19 to 2 (−89%) and BASFI from 14 to 1 (−93%) over the treatment period. Given the single-patient design, causal inference is limited; the observed improvement may reflect a combination of MSC effects and concomitant pharmacological support, and spontaneous fluctuation cannot be excluded. Lack of long-term follow-up and absence of a control condition further limit generalizability. Nevertheless, the temporal association and multisystem clinical response across two pathophysiologically distinct conditions support further prospective investigation of autologous MSC therapy in complex neuro-immunological disease settings.
Keywords: Huntington's disease; ankylosing spondylitis; UHDRS; BASFI; BASDAI; autologous stem cells; mesenchymal stem cells; regenerative neurology; case report
