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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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