This retrospective analysis evaluated whether serum cardiac troponin T (cTnT) may serve as a biomarker of treatment response in patients with SOD1-associated amyotrophic lateral sclerosis (ALS) treated with tofersen. Researchers analyzed 23 tofersen-treated SOD1-ALS patients from two German ALS clinics and compared them with 74 non-SOD1 ALS patients who were not treated with tofersen. At baseline, the tofersen-treated group was younger, had slower disease progression, and had lower serum neurofilament light chain (NfL) levels than controls. Over time, cTnT levels increased significantly in untreated ALS patients but remained stable in the tofersen-treated group.

The study found that cTnT changes under tofersen treatment appeared similar to previously reported NfL responses, suggesting cTnT may provide complementary information about therapeutic effects and peripheral disease activity in ALS. The stabilization of cTnT was also observed in the subgroup of slow progressors, helping reduce concern that the finding was only due to differences between the treated and control cohorts. Creatine kinase (CK) and CK-MB did not show consistent treatment-related changes. The authors note limitations, including the small tofersen-treated cohort and lack of an untreated SOD1-ALS comparator group, but conclude that cTnT may warrant further study as an accessible biomarker for ALS disease activity and treatment response.

Reference: Bernsen S, Fabian R, Koc Y, et al. Serum Cardiac Troponin T Levels as a Therapy Response Marker in Tofersen-Treated ALS. Muscle Nerve. 2025 Sep;72(3):509-514. doi: 10.1002/mus.28453.

This review describes how hereditary spastic paraplegia (HSP) diagnosis and treatment have evolved from a largely symptom-based model toward a more precise, genetics-driven approach. Historically, HSP diagnosis relied on clinical observation and family history. Treatment focused on managing spasticity, gait impairment, and complications through medications, physical therapy, botulinum toxin, intrathecal baclofen, and selected surgical approaches. However, evidence for many interventions remains limited by small sample sizes, heterogeneous patient groups, short follow-up, and inconsistent outcome measures. The authors emphasize that, despite improvements in symptom management, most current therapies do not modify disease progression.

The review also highlights newer advances that may reshape HSP care, including next-generation and long-read sequencing, multi-omics, patient-derived induced pluripotent stem cell models, gene therapy, drug repurposing, artificial intelligence-supported variant interpretation, wearable gait analysis, digital biomarkers, telemedicine, registries, and digital twin technology. Early examples, such as adeno-associated virus-based gene replacement in SPG50 and allele-specific antisense oligonucleotides in KIF1A-associated disease, suggest that highly targeted therapies may be possible for select ultra-rare neurogenetic disorders, though these approaches remain experimental. The authors conclude that HSP care is gradually moving toward more personalized, data-driven management, but most patients still rely on symptomatic treatment while disease-modifying strategies require further validation and long-term follow-up.

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Reference: Cipriano L, Angelini C, Maria Santorelli F. Hereditary spastic paraplegia: from decades of therapy to future innovations. Ther Adv Neurol Disord. 2026 Jan 12;19:17562864251406589. doi: 10.1177/17562864251406589.

This review summarizes peripheral neuropathy associated with systemic autoimmune and vasculitic diseases. Peripheral nerve involvement can present as mononeuropathy, mononeuritis multiplex, multifocal mononeuropathy, or symmetric sensorimotor polyneuropathy. Vasculitic neuropathy may occur as part of systemic vasculitis or as an isolated peripheral nerve process. It is often painful, asymmetric, and motor-sensory in presentation. The review emphasizes that peripheral neuropathy can be an important or even presenting feature of autoimmune disease, making detailed history, examination, and evaluation for systemic features essential.

The article reviews several associated conditions, including systemic lupus erythematosus, Behçet disease, scleroderma, Wegener’s granulomatosis, Churg-Strauss syndrome, cryoglobulinemia, hepatitis-associated vasculitis, polyarteritis nodosa, Sjögren’s syndrome, inflammatory bowel disease, sarcoidosis, and rheumatoid arthritis. Patterns vary by disease: Churg-Strauss syndrome and polyarteritis nodosa commonly involve peripheral nerves. Sjögren’s syndrome often causes sensory neuropathy or sensory neuronopathy. Sarcoidosis may cause facial palsy or sensorimotor neuropathy. Rheumatoid arthritis more often causes entrapment neuropathies but can rarely lead to serious vasculitic neuropathy. The authors conclude that clinicians should consider underlying autoimmune or vasculitic disease when evaluating neuropathy and that larger prospective studies are needed to clarify neuropathy characteristics and causes across these conditions.

Reference: Cojocaru IM, Cojocaru M, Silosi I, Vrabie CD. Peripheral nervous system manifestations in systemic autoimmune diseases. Maedica (Bucur). 2014 Sep;9(3):289-94.