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Purpose Methods Results Conclusions Level of Evidence This study investigated the effect of different fluoroscopy settings on the accuracy of locating Schottle's point during medial patellofemoral ligament (MPFL) reconstruction.The centre of the MPFL femoral footprint was identified and marked on 44 dry femurs. Two standard true lateral knee fluoroscopic images were obtained: (1) medial to lateral (ML) and (2) lateral to medial (LM). The deviation between the anatomically determined MPFL femoral footprint and the fluoroscopically identified point was measured on both fluoroscopic images. An ‘acceptable tunnel location’ was defined as within a 5‐ or 7‐mm margin of error from the anatomic MPFL footprint. Distal femoral morphometric dimensions were also measured using digital calipers. Statistical analysis determined discrepancies between techniques and their relation to femoral morphometry.The LM view yielded a significantly smaller distance between the anatomical MPFL footprint and Schottle's point compared to the ML view (3.2 ± 1.5 vs. 4.5 ± 2.1 mm, p < 0.001). The LM view achieved acceptable tunnel locations, meeting the 5‐mm error criterion in 90.9% of cases, while the ML view achieved 65.9% (p < 0.001). Both views yielded acceptable tunnel locations at similar rates using the 7‐mm error criterion (n.s.). The anatomic MPFL footprint was displaced towards the anterior and proximal location in the ML view in reference to the Schottle point. No correlation was observed between any of the morphometric measurements and the deviations.This study demonstrated that using the LM fluoroscopic view improves the accuracy of femoral tunnel placement when identifying the MPFL footprint via the Schottle technique. Adopting the LM view in surgical practice will help surgeons locate the anatomical femoral footprint accurately, replicating the native MPFL and enhancing clinical outcomes.Level 4, cadaveric study. [ABSTRACT FROM AUTHOR]

Objective: Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on single case reports, neuropathological data in OPTN mutation carriers have revealed transactive response DNA‐binding protein 43 kDa (TDP‐43) pathology, in addition to accumulations of tau and alpha‐synuclein. Herein, we present two siblings from a consanguineous family with a homozygous frameshift mutation in the OPTN gene and different clinical presentations. Methods: Both affected siblings underwent (i) clinical, (ii) neurophysiological, (iii) neuropsychological, (iv) radiological, and (v) laboratory examinations, and (vi) whole‐exome sequencing (WES). Postmortem histopathological examination was conducted in the index patient, who deceased at the age of 41. Results: The index patient developed rapidly progressing clinical features of upper and lower motor neuron dysfunction as well as apathy and cognitive deterioration at the age of 41. Autopsy revealed an ALS‐FTLD pattern associated with prominent neuronal and oligodendroglial TDP‐43 pathology, and an atypical limbic 4‐repeat tau pathology reminiscent of argyrophilic grain disease. The brother of the index patient exhibited behavioral changes and mnestic deficits at the age of 38 and was diagnosed with behavioral FTD 5 years later, without any evidence of motor neuron dysfunction. WES revealed a homozygous frameshift mutation in the OPTN gene in both siblings (NM_001008212.2: c.1078_1079del; p.Lys360ValfsTer18). Interpretation: OPTN mutations can be associated with extensive TDP‐43 pathology and limbic‐predominant tauopathy and present with a heterogeneous clinical phenotype within the ALS‐FTD spectrum within the same family. [ABSTRACT FROM AUTHOR]

Introduction/Aims: The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have specific treatments and prognoses, highlighting the importance of early diagnosis. The aim of this study was to assess the diagnostic value of serum neurofilament light chain (NfL) in differentiating MMN from LMN dominant ALS. Methods: NfL was measured in serum in n = 37 patients with MMN and n = 37 age‐ and sex‐matched patients with LMN dominant ALS, to determine the diagnostic accuracy. Clinical and demographic data were obtained at the time of NfL sampling. Results: Serum NfL concentration was significantly lower in MMN patients compared to ALS patients (mean 20.7 pg/mL vs. 59.4 pg/mL, p <.01). NfL demonstrated good diagnostic value in discriminating the two groups (AUC 0.985 [95% CI 0.963–1.000], sensitivity 94.6%, specificity 100%, cut‐off 44.00 pg/mL). Discussion: NfL could be a helpful tool in differentiating MMN from LMN dominant ALS in those patients in whom electrophysiological and clinical examinations remain inconclusive early in the diagnostic process. [ABSTRACT FROM AUTHOR]