Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers.

BACKGROUND AND PURPOSE: Thalamic alterations have been reported as a major feature in presymptomatic and symptomatic patients carrying the C9orf72 mutation across the frontotemporal dementia-amyotrophic lateral sclerosis (ALS) spectrum. Specifically, the pulvinar, a high-order thalamic nucleus and timekeeper for large-scale cortical networks, has been hypothesized to be involved in C9orf72-related neurodegenerative diseases. We investigated whether pulvinar volume can be useful for differential diagnosis in ALS C9orf72 mutation carriers and noncarriers and how underlying functional connectivity changes affect this region. METHODS: We studied 19 ALS C9orf72 mutation carriers (ALSC9+) accurately matched with wild-type ALS (ALSC9-) and ALS mimic (ALSmimic) patients using structural and resting-state functional magnetic resonance imaging data. Pulvinar volume was computed using automatic segmentation. Seed-to-voxel functional connectivity analyses were performed using seeds from a pulvinar functional parcellation. RESULTS: Pulvinar structural integrity had high discriminative values for ALSC9+ patients compared to ALSmimic (area under the curve [AUC] = 0.86) and ALSC9- (AUC = 0.77) patients, yielding a volume cutpoint of approximately 0.23%. Compared to ALSmimic, ALSC9- showed increased anterior, inferior, and lateral pulvinar connections with bilateral occipital-temporal-parietal regions, whereas ALSC9+ showed no differences. ALSC9+ patients when compared to ALSC9- patients showed reduced pulvinar-occipital connectivity for anterior and inferior pulvinar seeds. CONCLUSIONS: Pulvinar volume could be a differential biomarker closely related to the C9orf72 mutation. A pulvinar-cortical circuit dysfunction might play a critical role in disease progression and development, in both the genetic phenotype and ALS wild-type patients.

Clinical outcomes, MRI evaluation and predictive factors of indirect decompression with lateral transpsoas approach for lumbar interbody fusion: a multicenter experience.

Introduction: Evaluating the effects of indirect decompression obtained through lateral lumbar interbody fusion (LLIF) by clinical improvements and radiological parameters on MRI scans. Identifying predictors of better decompression and clinical outcome. Materials and methods: From 2016 to 2019, patients who underwent single- or double-level indirect decompression LLIF were consecutively reviewed. Radiological signs of indirect decompression were evaluated in preoperative and follow-up MRI studies and were subsequently correlated to clinical data, expressed as axial/radicular pain (VAS back/leg), index of disability (Oswestry Disability Index) and clinical severity of lumbar stenosis (Swiss Spinal Stenosis Questionnaire). Results: 72 patients were enrolled. The mean follow-up was 24 months. Differences in vertebral canal area (p < 0.001), height of the foramina (p < 0.001), thickness of the yellow ligament (p = 0.001) and anterior height of the interbody space (p = 0.02) were observed. Older age (p = 0.042), presence of spondylolisthesis (p = 0.042), presence of intra-articular facet effusion (p = 0.003) and posterior height of the implanted cage (p = 0.020) positively affected the increase of the canal area. Change in root canal area (p < 0.001), height of the implanted cage (p = 0.020) and younger age (p = 0.035) were predictive factors of root pain relief, while increased vertebral canal area (p = 0.020) and height of the interbody fusion cage (p = 0.023) positively affected the severity of clinical stenosis. Conclusions: LLIF indirect decompression showed both clinical and radiological improvements. Presence and degree of spondylolisthesis, presence of intra-articular facet effusion, age of the patient and height of the cage were predictive factors of major clinical improvements.

C9orf72 ALS mutation carriers show extensive cortical and subcortical damage compared to matched wild-type ALS patients.

OBJECTIVE: C9orf72 mutation carriers with different neurological phenotypes show cortical and subcortical atrophy in multiple different brain regions, even in pre-symptomatic phases. Despite there is a substantial amount of knowledge, small sample sizes, clinical heterogeneity, as well as different choices of image analysis may hide anatomical abnormalities that are unique to amyotrophic lateral sclerosis (ALS) patients with this genotype or that are indicative of the C9orf72-specific trait overlain in fronto-temporal dementia patients. METHODS: Brain structural and resting state functional magnetic imaging was obtained in 24 C9orf72 positive (ALSC9+) ALS patients paired for burden disease with 24 C9orf72 negative (ALSC9-) ALS patients. A comprehensive structural evaluation of cortical thickness and subcortical volumes between ALSC9+ and ALSC9- patients was performed while a region of interest (ROI)-ROI analysis of functional connectivity was implemented to assess functional alterations among abnormal cortical and subcortical regions. Results were corrected for multiple comparisons. RESULTS: Compared to ALSC9- patients, ALSC9+ patients exhibited extensive disease-specific patterns of thalamo-cortico-striatal atrophy, supported by functional alterations of the identified abnormal regions. Cortical thinning was most pronounced in posterior areas and extended to frontal regions. Bilateral atrophy of the mediodorsal and pulvinar nuclei was observed, emphasizing a focal rather than global thalamus atrophy. Volume loss in a large portion of bilateral caudate and left putamen was reported. The marked reduction of functional connectivity observed between the left posterior thalamus and almost all the atrophic cortical regions support the central role of the thalamus in the pathogenic mechanism of C9orf72-mediated disease. CONCLUSIONS: These findings constitute a coherent and robust picture of ALS patients with C9orf72-mediated disease, unveiling a specific structural and functional characterization of thalamo-cortico-striatal circuit alteration. Our study introduces new evidence in the characterization of the pathogenic mechanisms of C9orf72 mutation.

An uncommon cause of seizures in children living in developed countries: neurocysticercosis--a case report.

Neurocysticercosis represents an important cause of seizures in children in endemic countries, such as Latin America, Asia and sub-Saharan Africa, while in Europe, especially in Italy, the cases of neurocysticercosis are anectodal. We report the case of a 6 year old boy, born and lived for four years in Cameroon, who presented a right emiconvulsion. The diagnosis was neurocysticercosis. This case accentuates the need to consider neurocysticercosis in a child presenting with non febrile seizures, mainly if he emigrated from an area of high prevalence or if he had long-term stay in endemic regions.

Treatment of a middle cerebral artery giant aneurysm using a covered stent. Case report.

The authors report the case of a 60-year-old man harboring a wide-necked giant aneurysm of the M1 segment of the left middle cerebral artery (MCA); his symptoms included transient ischemic attacks characterized by right hemiparesis and aphasia. The aneurysm was treated by placing a covered stent across the orifice of the aneurysm. The 18-month follow-up examination showed a very good outcome, with perfect left MCA patency, no new ischemic lesion, and minor residual aphasia and right hemiparesis. This is the first report in the literature of an MCA aneurysm treated using a covered stent.