Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

Background and Objectives: GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset cerebellar ataxia (LOCA) caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies reviewing MR images of GAA-FGF14 ataxia patients revealed variable degree of cerebellar atrophy in 74-97% of them. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide 1) supportive diagnostic features and earlier disease recognition and 2) further information about the pathophysiology of the disease. Methods: We reviewed the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years; 16 females) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) including longitudinal studies for 7 subjects. We performed qualitative analyses to assess the presence and degree of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cerebellar peduncles involvement, we verified its presence in 54 GAA-FGF14 ataxia patients from four independent cohorts (Tübingen n=29; Donostia n=12; Innsbruck n=7; Cantabria n=6). To assess lobular atrophy, we also performed quantitative cerebellar segmentation in 5 subjects and 5 age-matched controls. Results: Cerebellar atrophy of variable degree was documented in 33 subjects (94.3%); limited to the vermis in 11 subjects, extended to the hemispheres in 22. We observed bilateral involvement of the superior cerebellar peduncles (SCPs) in 22 subjects (62.8%). We confirmed this finding in 30/54 (55.6%) GAA-FGF14 positive subjects from the validation cohorts. Additional findings were: cerebral atrophy in 15 subjects (42.9%), ventricular enlargement in 13 (37.1%), corpus callosum thinning in 7 (20%), and brainstem atrophy in 1 (2.8%). Cerebellar segmentation showed reduced volumes of lobules X and IV in affected individuals. Discussion: Our study confirms that cerebellar atrophy is a key feature of GAA-FGF14 ataxia. The frequent SCP involvement observed in different cohorts may be specific to GAA-FGF14 ataxia, and its detection can support and accelerate the diagnosis. The predominant involvement of vestibulocerebellar lobule X correlates with the finding of downbeat nystagmus frequently observed in GAA-FGF14 ataxia patients.

CT-guided percutaneous cyanoacrylate injection targeting the spinal cerebrospinal fluid leak: a potential therapeutic option for spontaneous intracranial hypotension.

BACKGROUND: We report the first case series of spontaneous intracranial hypotension (SIH) patients who underwent CT-guided percutaneous cyanoacrylate injection targeting the cerebrospinal fluid (CSF) leak. METHODS: A retrospective analysis was performed for all consecutive cases of SIH patients with CSF leak confirmed on CT myelography, treated by CT-guided percutaneous cyanoacrylate injection at our institution from 2016 to 2022. On pretreatment brain and spine MRIs, we analyzed signs of SIH according to the Bern score, and dichotomized cases into positive/negative for spinal longitudinal extradural CSF collection (SLEC-P or SLEC-N). The leaks detected on CT myelography were classified into three types according to Schievink et al. We collected the Headache Impact Test 6 (HIT-6) scores throughout a 6-month follow-up, with a brain CT scan at each visit. RESULTS: 11 patients were included (mean age 48.4 years, six men). Five SLEC-P type 1, three SLEC-P type 2, and three SLEC-N type 3 leaks were identified. All patients had significant signs of SIH on pretreatment brain MRI (mean Bern score 7.8±1.1). Six patients underwent a foraminal puncture, and five patients had a cervical epidural approach. Two patients experienced mild and transient locoregional pain after cervical epidural injection. Mean HIT-6 score at baseline was 66.8±3.2 and at the 6-month follow-up was 38±3.6 (P<0.001). All patients achieved improvement in their symptoms, with 82% of them (9/11) having complete resolution of headaches and SIH findings on CT scans at 6 months. No clinical worsening or recurrence was observed. CONCLUSIONS: CT-guided percutaneous cyanoacrylate injection may be a potential therapeutic option for the different types of CSF leak causing SIH.

Susceptibility weighted imaging for ruptured basilar artery perforator aneurysms in the setting of angiographically negative subarachnoid hemorrhage.

BACKGROUND: Ruptured basilar artery perforator aneurysms (BAPAs), defined as microaneurysms which develop in basilar perforator arteries without direct involvement of the basilar trunk, represent a rare cause of subarachnoid hemorrhage (SAH). The diagnosis of BAPAs is difficult because of their small size, with high rates of negative angiography. The development of high-resolution MRI could increase the diagnostic performance. In this study we describe the usefulness of susceptibility weighted imaging (SWI) for the diagnosis of ruptured BAPAs. METHODS: In a case series, we retrospectively collected data of patients admitted to our institution from 2018 to 2021 for SAH with negative CT angiography who underwent MRI (including SWI) and DSA during hospitalization. RESULTS: Eight patients with a definitive diagnosis of ruptured BAPA and five patients with a definitive diagnosis of angiogram-negative SAH were included. In all of the patients with BAPAs MRI showed a focal, thick, semi-circumferential SWI hypointensity covering the vessel wall at the level of the BAPA subsequently revealed on DSA; this phenomen is known as 'SWI capping'. No SWI capping was observed in the five patients with a definitive diagnosis of angiogram-negative SAH. CONCLUSION: SWI capping appears to be a reliable indirect sign for the diagnosis and localization of ruptured BAPAs, a rare form of microaneurysm easily misdiagnosed on DSA in initial angiogram-negative SAH.

A high 18F-FDOPA uptake is associated with a slow growth rate in diffuse Grade II-III gliomas.

OBJECTIVE: In diffuse Grade II-III gliomas, a high 3,4-dihydroxy-6-(18F)-fluoro-L-phenylalanine (18F-FDOPA) positron emission tomography (PET) uptake, with a standardized uptake value (SUVmax)/contralateral brain tissue ratio greater than 1.8, was previously found to be consistently associated with the presence of an isocitrate dehydrogenase (IDH) mutation, whereas this mutation is typically associated with a better prognosis. This pilot study was aimed to ascertain the prognostic value of this high 18F-FDOPA uptake in diffuse Grade II-III gliomas with regard to the velocity of diameter expansion (VDE), which represents an established landmark of better prognosis when below 4 mm per year. METHODS: 20 patients (42 ± 10 years, 10 female) with newly-diagnosed diffuse Grade II-III gliomas (17 with IDH mutation) were retrospectively included. All had a 18F-FDOPA PET, quantified with SUVmax ratio, along with a serial MRI enabling VDE determination. RESULTS: SUVmax ratio was above 1.8 in 5 patients (25%) all of whom had a VDE <4 mm/year (100%) and IDH mutation (100%). Moreover, a SUVmax ratio above 1.8 was associated with higher rates of VDE <4 mm/year in the overall population (45 vs 0%, p = 0.04) and also in the subgroup of patients with IDH mutation (45 vs 0%, p = 0.10). CONCLUSION: This pilot study shows that in diffuse Grade II-III gliomas, a high 18F-FDOPA uptake would be predictive of low tumour growth, with a different prognostic significance than IDH mutation. Advances in knowledge: 18F-FDOPA PET in a single session imaging could have prognostic value in initial diagnosis of diffuse Grade II-III gliomas.

Predictive factors of brain death in severe stroke patients identified by organ procurement and transplant coordination in Lorrain, France.

There are no established predictive factors to identify patients at the acute phase of severe stroke with a high probability of presenting brain death (BD). We retrospectively collected clinical and paraclinical data of consecutive patients at the acute phase of severe stroke with a potential progression to BD through the hospital organ procurement and transplant coordination system in five centres in Lorrain (France) between 1 January 2012 and 31 December 2013. Final endpoint was adjudicated BD. Of 400 included patients, 91 (23%) presented adjudicated BD. Initial Glasgow Coma Scale score ≤6 (P = 0.008), herniation (P = 0.009), hydrocephalus (P = 0.019), initial systolic blood pressure >150 mmHg (P = 0.002), past history of alcohol abuse (P = 0.019) and stroke volume >65 ml (P = 0.040) were significantly associated with BD progression. Two prognostic scores for stroke with unquantifiable or quantifiable volume were built according to the number of risk factors presented. Following internal validation, the respective bias-corrected predictive performance (c-index) of the two scores was 72% (95% confidence interval: 67-78%) and 77% (95% confidence interval: 72-82%). These scores could form the basis of a simple tool of six criteria to help physicians make the difficult decision of intensive care unit management to preserve organs in potential donors.