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Background: Diabetic Striatopathy (DS) is a rare complication of a poor‐controlled Diabetes Mellitus consisting of sudden onset of movement disorders. To date, there is still poor knowledge about the pathogenesis. Case: We describe a 79 year old men affected by sudden onset hemichoreic movements whose cause was a non‐ketotic hyperglycaemia diagnosed despite the normal blood glucose levels thanks to brain CT and magnetic resonance imaging. Then, we introduce a new magnetic resonance spectroscopy (MRS) finding never described until today which allowed us to produce a new pathogenetic theory of a phenomenon still without definitive explanations. Literature Review: We performed a review of DS cases using the Medline database and we extracted main data regarding imaging findings. Conclusions: Thanks to our MRS we show new imaging findings never described until today, with a new pathogenetic explanation, since all the causative hypotheses produced during the past years have never found evidence. [ABSTRACT FROM AUTHOR]

This study aimed at assessing the clinimetrics of the Montreal Cognitive Assessment (MoCA) in an Italian cohort of patients with adult-onset idiopathic focal dystonia (AOIFD). N = 86 AOIFD patients and N = 92 healthy controls (HCs) were administered the MoCA. Patients further underwent the Trail-Making Test (TMT) and Babcock Memory Test (BMT), being also screened via the Beck Depression Inventory-II (BDI-II) and the Dimensional Apathy Scale (DAS). Factorial structure and internal consistency were assessed. Construct validity was tested against TMT, BMT, BDI-II and DAS scores, whilst diagnostics against the co-occurrence of a defective performance on at least one TMT measure and on the BMT. Case–control discrimination was examined. The association between MoCA scores and motor-functional measures was explored. The MoCA was underpinned by a mono-component structure and acceptably reliable at an internal level. It converged towards TMT and BMT scores, as well as with the DAS, whilst diverging from the BDI-II. Its adjusted scores accurately detected cognitive impairment (AUC =.86) at a cut-off of < 17.212. The MoCA discriminated patients from HCs (p <.001). Finally, it was unrelated to disease duration and severity, as well as to motor phenotypes. The Italian MoCA is a valid, diagnostically sound and feasible cognitive screener in AOIFD patients. [ABSTRACT FROM AUTHOR]

Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years. Here we present two siblings affected by dystonia 24 associated to a novel missense mutation of the ANO3 gene. Description of their phenotype, with regard to motor and non-motor features, may improve the knowledge on DYT 24. Consistent with previous reports, our patients presented with cranio-cervical involvement, and they also exhibited different severity and phenotypes. However non-motor symptoms were present too. Dystonia 24 spectrum is continuously expanding. This case suggests that the ANO3 missense mutation should be sought in all cases of dystonia and isolated tremor and that non-motor symptoms are an integral part of dystonic syndromes. It also shows that clinical and treatment features may vary from patient to patient, even if they may present the same mutation. • We report on a de novo mutation of the ANO3 gene, causing Dystonia 24 (DYT24) in two siblings. • DYT24 may manifest with a wide variety of motor and non-motor symptoms. • Our siblings exhibited different severity and phenotypes. • Therapeutical options need to be personalized in such dystonia. [ABSTRACT FROM AUTHOR]