IntroductionADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated.MethodsWe performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia. All patients had normal CSF analysis and brain imaging and were regularly followed-up in tertiary centers for paediatric movement disorders.ResultsWe identified five unrelated subjects with ADCY5 mutations (11% of the cohort). Three carried the p. R418W mutation, one the p. R418Q and one the p. R418G mutation. Mutations arose de novo in four cases, while one patient inherited the mutation from his similarly affected father. All patients had delayed motor and/or language milestones with or without axial hypotonia and showed generalized chorea and dystonia, with prominent myoclonic jerks in one case. Episodic exacerbations of the baseline movement disorder were observed in most cases, being the first disease manifestation in two patients. The disease course was variable, from stability to spontaneous improvement during adolescence.ConclusionMutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy. A residual degree of neck hypotonia and a myopathy-like facial appearance are frequently observed in patients with ADCY5 mutations.

DOAC-related ICH is associated with smaller baseline hematoma volume and lesser neurologic deficit at hospital admission compared to VKA-related ICH.

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Summary Although daytime sleepiness is commonly associated with obstructive sleep apnoea (OSA), the relationship between OSA severity and subjective sleepiness has been documented elusive. This study aimed to identify clinical and polysomnographic determinants of subjective sleepiness among patients suspected of having OSA. A sleep clinic‐based sample of 915 patients was interviewed with a structured questionnaire and underwent diagnostic overnight polysomnography. Subjective sleepiness was quantified by Epworth Sleepiness Scale (ESS). Excessive daytime sleepiness (defined as ESS score > 10) was present in 38.8% of patients. In multiple linear regression analysis, respiratory disturbance index [RDI; used to define (whenever RDI was >5) and quantify OSA], depression and diabetes were the most important determinants of ESS score accounting for 17%, 11% and 6% of its variability respectively. Chronic obstructive pulmonary disease (COPD), stroke, heart disease, alcohol use and body mass index were less important determinants of ESS score explaining 1–3% of its variability. In conclusion, OSA should not be considered the sole potential cause of increased subjective sleepiness in patients suspected of having OSA. Primarily depression and diabetes, but also COPD, stroke, heart disease, alcohol use and increased body mass index may contribute to increased subjective sleepiness.

We conclude that EOD patients are more likely to be seen in specialized settings. The underlying diseases are considerably different in EOD compared with LOD. Secondary causes are often found in patients with EOD. Patients with EOD had an unexpectedly longer time-to-diagnosis than patients with LOD. This argues for a need of better education about the clinical presentation of dementia in the young and middle aged.

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The Stroop Test is a quick and frequently used measure in screening for brain damage, dysfunction of selective attention, and cognitive flexibility. The purpose of the present study is to provide normative data for Trenerry's Stroop Neuropsychological Screening Test (SNST) in a sample of 605 healthy Greek participants (age range: 18-84 years, education range: 6-18 years). Results revealed that age and education significantly contributed to SNST scores, accounting for a significant proportion of variance in time needed to complete the color task and in the interference Color-Word score. Performance on most of the measures decreases with increasing age and lower levels of education. Normative data stratified by age and education for the Greek adult population are provided as a useful set of norms for clinical practice.

Summary Purpose:  Epileptiform discharges (EDs) may be part of the internal arousing stimuli that affect the quality of sleep in patients with epilepsies. We studied the association between EDs and sleep phasic phenomena, and its relevance to seizure control in 19 patients with juvenile myoclonic epilepsy (JME). Methods:  We analyzed the first cycle of non‐REM (rapid eye movement) sleep in 22 sleep‐deprived electroencephalography (EEG) studies and classified EDs within the cyclical alternating pattern (CAP) frame, grouping separately the EDs that occurred at the transition between phases (B to A and A to B). Results:  Within CAP periods, 36.7% of EDs occurred in A phase, 26.7% in B phase, 31.5% at “B to A” transition, and 3% at “A to B” transition. Poor seizure control was strongly associated with increased EDs in phase B (p = 0.0016) and at the “B to A” transition (p = 0.002), but marginally with increased EDs in phase A (p = 0.03). Focal spikes were increased in phase B. Discussion:  EDs are facilitated by increased vigilance (A phase), but they may also enhance CAP cycling by generating A phases when those that occur at the “B to A” transition are interpreted as successfully breaking through the state of reduced arousal (phase B) because of increased epileptic pressure. This promotes sleep instability and further fosters epileptic activity, and conceivably seizures. This hypothesis is also supported by the strong correlation between EDs during phase B (including “B” and “B to A”) and poor seizure control. The enhanced nonlocalizing focal spikes in phase B may reflect successful inhibition of generalized EDs.