Autoimmune and paraneoplastic neurological disorders: A review of relevant neuroimaging findings.

INTRODUCTION: Paraneoplastic neurologic syndromes (PNS) and autoimmune encephalitis (AIE) are immune-mediated disorders. PNS is linked to cancer, while AIE may not Their clinical manifestations and imaging patterns need further elucidation. OBJECTIVE/AIMS: To investigate the clinical profiles, antibody associations, neuroimaging patterns, treatments, and outcomes of PNS and AIE. METHODS: A systematic review of 379 articles published between 2014 and 2023 was conducted. Of the 55 studies screened, 333 patients were diagnosed with either PNS or AIE and tested positive for novel antibodies. Data on demographics, symptoms, imaging, antibodies, cancer associations, treatment, and outcomes were extracted. RESULTS: The study included 333 patients (mean age 54 years, 67% males) with PNS and AIE positive for various novel antibodies. 84% had central nervous system issues like cognitive impairment (53%), rhombencephalitis (17%), and cerebellar disorders (24%). Neuroimaging revealed distinct patterns with high-risk antibodies associated with brainstem lesions in 98%, cerebellar in 91%, hippocampal in 98%, basal ganglia in 75%, and spinal cord in 91%, while low/intermediate-risk antibodies were associated with medial temporal lobe lesions in 71% and other cortical/subcortical lesions in 55%. High-risk antibodies were associated with younger males, deep brain lesions, and increased mortality of 61%, while low/intermediate-risk antibodies were associated with females, cortical/subcortical lesions, and better outcomes with 39% mortality. Associated cancers included seminomas (23%), lung (19%), ovarian (2%), and breast (2%). Treatments included IVIG, chemotherapy, and plasmapheresis. Overall mortality was 25% in this cohort. CONCLUSION: PNS and AIE have distinct clinical and radiological patterns based on antibody profiles. High-risk antibodies are associated with increased mortality while low/intermediate-risk antibodies are associated with improved outcomes. Appropriate imaging and antibody testing are critical for accurate diagnosis.

Atypical findings: Atypical parkinsonian syndromes or Atypical parkinsonian syndromes look-alikes.

OBJECTIVE: In parkinsonian syndromes, presentations other than current diagnostic criteria are considered atypical findings. Our goal was to identify and describe the frequency and features of uncommon manifestations of atypical parkinsonian syndromes within our group. METHODS: We retrospectively retrieved the medical records of all patients admitted to our clinic with parkinsonism between January 2011 and January 2022. We only included patients with atypical parkinsonian syndromes, in which the diagnosis was based on current clinical criteria. We retrospectively analyzed neurological, psychiatric, radiological, and electrophysiological characteristics. Typical and atypical features were classified according to the current clinical criteria and previous reports. RESULTS: We determined 51 patients with atypical parkinsonian syndromes; 46 were included, whereas five were excluded due to insufficient follow-up. The probable diagnoses were multiple system atrophy (MSA, n = 19), dementia with Lewy bodies (DLB, n = 10), frontotemporal dementia (FTD, n = 10), corticobasal syndrome (CBS, n = 3), progressive supranuclear palsy (PSP, n = 4). The prevalence of atypical findings was similar among different types of atypical parkinsonian syndromes (p = 0.847). Atypical findings were eyelid myoclonus, double vision in MSA; ataxia, myoclonus, and a typical hummingbird sign on MRI in DLB; pyramidal findings and family history in FTD; early onset, family history, and onset with psychiatric findings in PSP-like phenotype. Genetic causes were identified in the FTD-like phenotype with pyramidal findings, whereas symptom onset was early with myoclonus in the PSP-like phenotype. CONCLUSION: Atypical findings such as abnormal saccades, myoclonus, and ataxia may be a part of degenerative syndromes. However, family history, onset at an earlier age, and specific neurological findings suggest genetic syndromes.