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A BS TRACT: Background: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6associated neurodegeneration. Objectives: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results: PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/ dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. Early bladder overactivity was present in 71.9% of cases. Cognitive impairment affected 76.1% of cases and psychiatric features 87.1%, the latter being an isolated presenting feature in 20.1%. Parkinsonism was levodopa responsive but complicated by early, often severe dyskinesias. Five patients benefited from deep brain stimulation. Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident in only 28.1%. Presynaptic dopaminergic terminal imaging was abnormal in all where performed. Fifty-four PLA2G6 mutations have hitherto been associated with parkinsonism, including four new variants reported in this article. These are mainly nontruncating,

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Purpose We analysed delay in diagnosis (DID) and disease severity in patients with vertebral tuberculosis (TB) in India. Methods We interviewed 228 patients with vertebral TB and reviewed their diagnostic magnetic resonance images (MRIs). We examined patient characteristics at the time of presentation and associations between socioeconomic background, access to care, DID and radiographic disease severity at the time of diagnosis. Results The most common presenting symptom was localised back pain (84%), followed by fever (40%) and pain elsewhere (28%). The median DID was five months [interquartile range (IQR) 3-9]. In multivariate logistic regression, Muslim and older patients had a higher risk of extreme (more than ten months) DID [adjusted odds ratio (aOR) 2.91; 95% confidence interval (CI) 1.20-7.08 and 2.33; 95% CI 1.23-4.94, respectively]. One hundred and two patients (64%) had vertebral abscesses. Median local kyphotic deformity was 11.7°(IQR 0-18.5°). Fifty-four (34%) patients had radiologically severe disease at the time of diagnosis. Older patients and those with higher education were less likely to have severe disease at the time of diagnosis (aOR 0.32; 95% CI 0.13-0.76 and 0.20 95% CI 0.06-0.62, respectively). Patients who experienced extreme DID were more likely to have severe disease (aOR 2.67; 95% CI 1.05-6.99). Conclusions Most patients in this cohort experienced long delays in diagnosis, and such delay was significantly associated with the presence of severe disease. Clinicians in TBendemic areas must consider vertebral TB early and obtain imaging in patients who complain of persistent back pain. Improved diagnostic criteria are needed to identify patients at higher risk of disease.

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Background Loss of nigrosome‐1 on 3T and 7T magnetic resonance imaging (MRI) is a recently explored imaging biomarker in the diagnosis of neurodegenerative parkinsonism. Objectives This study was undertaken to evaluate the utility of imaging of nigrosome in the diagnosis of neurodegenerative parkinsonism on 3T MRI. Methods An institution‐based prospective case–control study was conducted at a tertiary care center in North India. 3T venous blood oxygen level‐dependent (VenoBOLD) and high‐resolution susceptibility‐weighted imaging (SWI) imaging sequences in MRI were performed in 100 patients with parkinsonism (56 with idiopathic Parkinson's disease [IPD], 30 with young onset Parkinson's disease [YOPD], 12 with progressive supranuclear palsy, and 2 patients with multiple system atrophy) and 15 controls. Grading of nigrosome was done in both the sequences. Each patient underwent 18F‐DOPA positron emission tomography (PET), detailed neurological examination including Hoen and Yahr (H&Y) staging and Movement Disorder Society‐Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS‐UPDRS) scoring. Results The diagnostic sensitivity and specificity of the detection of loss of nigrosome‐1 on VenoBOLD and SWI sequence at 3T MR imaging were 90% and 66.7% and 94% and 80%, respectively. A weak negative correlation was found between the grading of the nigrosome and clinical parameters (H&Y and UPDRS III). There was no correlation between the side of nigrosome loss and clinical asymmetry. However, nigrosome imaging was not able to differentiate between Parkinson's disease and atypical parkinsonism. Conclusions The loss of nigrosome‐1 on 3T MRI on SWI and VenoBOLD sequences may serve as a potential imaging marker in the diagnosis of degenerative parkinsonian syndromes. However, it cannot differentiate between idiopathic Parkinson's disease and atypical parkinsonian syndromes.

Chorea induced by diabetic nonketotic hyperglycemia is a rare and poorly understood entity with a favorable prognosis after correction of the hyperglycemia. We present a case of elderly diabetic woman with poorly controlled blood glucose levels, presenting with choreiform movements limited to the right side. 18F-FDG PET/CT showed marked hypometabolism in the basal ganglia contralateral to the side with hemichorea. The metabolic dysfunctions lead to nonketotic hyperglycemic chorea, although poorly understood; the index case demonstrated severe glucose hypometabolism in the striatum and adds to the other reported differential diagnoses for striatal hypometabolism.