The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. The presence of the C9orf72 expansion was also investigated. Twelve patients had mutations in the SOD1, TARDBP, MATR3, and FUS genes, while 10 patients carried the C9orf72 expansion. One female patient was found to carry the D348G mutation in MAPT, previously reported in an Italian family with lower motor neuron disease. Our patient presented both upper and lower motor neuron signs, early development of dyspnea, resting and kinetic tremor, and a slow disease course (> 11 years). The present case further broadens the clinical phenotype associated with MAPT mutations and suggests that, although rarely, MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.

Objective: The aim of the present study is to describe the ultrasound (US) and magnetic resonance imaging (MRI) findings in patients with neuropathies affecting the deep (DB) and superficial (SB) branches of the Ulnar nerve (UN) and to investigate the potential role of imaging modalities in the diagnostic workup of these conditions. Materials and methods: We screened our institutional imaging database to identify patients with a diagnosis of UN mononeuropathy, and among them, we reviewed the cases where US disclosed pathological findings affecting the UN terminal divisions. In this latter subgroup, we retrieved available data on MRI and electrodiagnostic tests performed by the patients during the diagnostic workup. All the patients were evaluated with US machines equipped with 17–5-MHz, 18–4-MHz, 24–8-MHz, or 22–8-MHz probes. MRI exams were performed on a 3-T unit equipped with a 64-channel head RF coil. Results: Among 166 patients with UN mononeuropathy, we retrieved 15 patients (9%) for which US detected pathological findings affecting the UN terminal divisions, consisting of 7 cases of DB neuropathy, 4 cases of SB neuropathy, and 4 cases of combined neuropathy involving both nerves. Seven (46.7%) patients were submitted to MRI to integrate US findings. Among patients with SB and DB neuropathies, imaging allowed the identification of 7 traumatic nerve injuries, 2 nerve tumors, and 6 entrapment neuropathies, including 4 cases of nerve compression by a ganglion cyst. Conclusion: High-resolution US and MRI are accurate modalities for the investigation of patients with SB/DB neuropathy, can provide critical information on the cause of nerve damage, and guide therapeutic decisions. Critical relevance statement: High-resolution US and MRI are accurate modalities for the investigation of patients with superficial/deep branch of the ulnar nerve neuropathy. In the proper setting, US may be regarded as a first-line approach in patients with suspected neuropathies affecting these small branches. Key points: • Neuropathies affecting the distal ulnar nerve often require multimodal investigations. • US and MRI can provide detailed morphological information about the terminal branches of the ulnar nerve. • US may be considered as a first-line approach in suspected distal ulnar nerve neuropathies. Graphical

Recent studies suggest that psychological resilience (PR) is associated with more well-preserved cognition in healthy subjects (HS), but an investigation of such phenomenon in patients with motor neuron diseases (MNDs) is still lacking. The aim of our study was therefore to evaluate PR and its relationship with baseline cognitive/behavioral and mood symptoms, as well as longitudinal cognitive functioning, in MNDs. 94 MND patients and 87 demographically matched HS were enrolled. PR was assessed using the Connor-Davidson Resilience Scale (CD-RISC). Patients were further evaluated both at baseline and every 6 months for cognitive/behavioral disturbances using the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), and for mood symptoms using the Hospital Anxiety and Depression Scale (HADS). CD-RISC scores were compared between patients and HS using the Mann-Whitney U test, and regression models were applied to evaluate the role of CD-RISC scores in predicting baseline cognitive/behavioral and mood measures, as well as longitudinal cognitive performances, in MND patients. MND cases showed significantly greater PR compared to HS (p from <0.001 to 0.02). In MNDs, higher PR levels were significant predictors of both greater cognitive performance (p from 0.01 to 0.05) and milder mood symptoms (p from <0.001 to 0.04) at baseline, as well as less severe memory decline (p from 0.001 to 0.04) longitudinally. PR is an important protective factor against the onset and evolution of cognitive/mood disturbances in MNDs, suggesting the usefulness of resilience enhancement psychological interventions to prevent or delay cognitive and mood disorders in these neurodegenerative conditions.