Introduction Aicardi‐Goutières syndrome (AGS) is a genetic disease presenting with early‐onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results A total of 5 patients and 1 asymptomatic carrier from 3 different families were identified. All had a homozygous c.529G>A,p.A177T mutation in exon 7 of the RNASEH2B gene. Two patients had neonatal‐onset AGS, 2 had later onset forms, and 1 was slightly symptomatic. All were diagnosed in adulthood after chilblains, and basal ganglia calcifications were identified on computed tomography scans. Discussion AGS patients have marked phenotypic variability regarding psychomotor development and morbidity. The present series included 1 asymptomatic carrier and 1 slightly symptomatic patient, both with homozygous RNASEH2B mutations. Chilblains and basal ganglia calcifications identified on computed tomography scan (but not on magnetic resonance imaging) are important clues for late diagnosis.

Objectives -We aim to assess the impact of early nocturnal blood pressure (BP) variation in the functional outcome of patients after an acute ischemic stroke. Materials and methods -We included consecutive stroke patients treated with intravenous thrombolysis (IVrtPA) in a tertiary stroke center. BP measurements were performed at regular intervals throughout day and night during the first 48 h after stroke onset, and subjects were divided into four dipping categories (extreme dippers, dippers, non-dippers, and reverse dippers). Recanalization was assessed by transcranial color-coded Doppler and/or angiographic CT. Hemorrhagic transformation was evaluated at 24 h follow-up CT scan. Functional outcome was evaluated at 3 months after stroke using the modified Rankin Scale. Results -A total of 304 patients were included, mean age 72.80 AE 11.10 years. After 24 h of systolic BP monitoring, 30.59% were classified as reverse dippers, 39.14% as non-dippers, 19.10% as dippers, and 11.18% as extreme dippers. Multivariate analysis did not show an independent association of any dipping class with 3-month functional outcome. Hemorrhagic transformation was not uniform between dipping classes: 25.81% for reverse dippers, 14.29% for non-dippers, 15.52% for dippers, and 5.88% for extreme dippers, P = 0.033. Conclusions -Nocturnal BP dipping pattern is not associated with functional outcome at 3 months in acute stroke patients treated with IVrtPA. Hemorrhagic transformation was more frequent in reverse dippers.

Peripheral neuropathy is a common problem in patients with Parkinson’s disease. Peripheral neuropathy’s prevalence in Parkinson’s disease varies between 4.8% - 55%, compared to 9% in the general population. It remains unclear whether peripheral neuropathy leads to decreased motor performance in Parkinson’s disease, resulting in impaired mobility and increased balance deficits. We aimed to determine the prevalence and type of peripheral neuropathy in Parkinson’s disease patients, and evaluate its functional impact on gait and balance. A cohort of consecutive Parkinson’s disease patients assessed by Movement Disorders’ specialists based on the UK Brain Bank criteria underwent clinical, neurophysiological (nerve conduction studies and Quantitative Sensory Testing) and neuropathological (Intraepidermal nerve fiber density in skin biopsies’ punches) evaluation, to characterize peripheral neuropathy’s type and etiology with a cross-sectional design. Gait and balance were characterized using wearable health-technology at OFF and ON medication states and the main parameters were extracted using validated algorithms. A total of 99 Parkinson’s disease participants with a mean age of 67.2 (±10) years-old and mean disease duration of 6.5 (±5) years were assessed. Based on a comprehensive clinical, neurophysiological and neuropathological evaluation we found that 40.4% of Parkinson’s disease patients presented peripheral neuropathy, with a predominance of small fiber neuropathy (70% of the group). At OFF state, the presence of peripheral neuropathy was significantly associated with shorter stride length (P = 0.029), slower gait speed (P = 0.005) and smaller toe-off angles (P = 0.002) during straight walking; significantly slower speed (P = 0.019) and smaller toe-off angles (P = 0.007) were also observed during circular walking. At ON state, the above effects remained, albeit moderately reduced. With regard to balance, significant differences between Parkinson’s disease patients with and without peripheral neuropathy were observed at OFF medication state during stance with closed eyes on a foam surface. At ON states, these differences were no longer observable. We showed that peripheral neuropathy is common in Parkinson’s disease, and influences gait and balance parameters, as measured with mobile health-technology. Our study supports that peripheral neuropathy recognition and directed treatment should be pursued in order to improve Parkinson’s disease patient’s gait and minimize balance related disability, targeting individualized medical care.

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