Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients. However, CoQ10 deficiency is a rare cause of cerebellar ataxia and ADCK3 is the most frequent gene associated with this defect. We herein report a 48 year old man, who presented with dysarthria and walking difficulties. Brain magnetic resonance imaging showed a marked cerebellar atrophy. Serum lactate was elevated. Tissues obtained by muscle and skin biopsies were studied for biochemical and genetic characterization. Skeletal muscle biochemistry revealed decreased activities of complexes I+III and II+III and a severe reduction of CoQ10, while skin fibroblasts showed normal CoQ10 levels. A mild loss of maximal respiration capacity was also found by high-resolution respirometry. Molecular studies identified a novel homozygous deletion (c.504del_CT) in ADCK3, causing a premature stop codon. Western blot analysis revealed marked reduction of ADCK3 protein levels. Treatment with CoQ10 was started and, after 1 year follow-up, patient neurological condition slightly improved. This report suggests the importance of investigating mitochondrial function and, in particular, muscle CoQ10 levels, in patients with adult-onset cerebellar ataxia. Moreover, clinical stabilization by CoQ10 supplementation emphasizes the importance of an early diagnosis.

Cognitive reserve (CR) is defined as the ability to cope with brain damage due to pre-existing cognitive processes or to the development of new compensatory processes. Existing research on CR is mostly based on the study of neurodegenerative disorders, such as Alzheimer's disease. Recently, however, this construct has also been applied to other neurological conditions, including multiple sclerosis, Parkinson's disease, epilepsy, stroke, and traumatic brain injury. The present review provides an overview of the studies that have investigated the influence of CR on neuropsychological outcome in stroke and traumatic brain injury patients. We performed a selective search on MEDLINE, CINAHL, and Web of Science Core Collection, using specific keywords including "cognitive reserve", "stroke", and "traumatic brain injury". The review is organized as follows: the first section focuses on works investigating the effect of CR on neuropsychological outcomes in post-stroke patients; the second section discusses studies which support the CR theory in traumatic brain injury. This review suggests that the study of CR in adult brain injury is still insufficient. Future research should investigate the role of other variables, like cognitive and social activities, as markers of CR in patients with brain injury, functional brain correlates of CR in brain activity, and the effect of CR on brain injury rehabilitative outcomes.

Neuropsychological testing is a milestone of good practice to document cognitive deficits in a rapidly aging population. The aim of this paper is to validate the Italian version of Montreal Cognitive Assessment (MoCA). We compared subjects performance at the Italian version of MoCA with performance at standard Mini Mental State Examination (MMSE). The whole sample is composed of 287 subjects. All participants were administered three MoCA and a standard MMSE within 4 weeks. Through ROC analysis the optimal MoCA cut-off point was identified, showing high levels of sensitivity and specificity and an accuracy of .96, with 95% confidence interval. Intra rater reliability and intra rater reliability are highly significant with respect to the MMSE. Results highlight that MoCA is a valid instrument in clinical and research screening and monitoring of subjects affected by cognitive disorders. Further studies may be directed to the deepening of the reliability and validity of the test.

Objective. To investigate the influence of demographic and clinical variables, such as depression, fatigue, and quantitative MRI marker on cognitive performances in a sample of patients affected by multiple sclerosis (MS). Methods. 60 MS patients (52 relapsing remitting and 8 primary progressive) underwent neuropsychological assessments using Rao's Brief Repeatable Battery of Neuropsychological Tests (BRB-N), the Beck Depression Inventory-second edition (BDI-II), and the Fatigue Severity Scale (FSS). We performed magnetic resonance imaging to all subjects using a 3 T scanner and obtained tissue-specific volumes (normalized brain volume and cortical brain volume). We used Student's t-test to compare depressed and nondepressed MS patients. Finally, we performed a multivariate regression analysis in order to assess possible predictors of patients' cognitive outcome among demographic and clinical variables. Results. 27.12% of the sample (16/59) was cognitively impaired, especially in tasks requiring attention and information processing speed. From between group comparison, we find that depressed patients had worse performances on BRB-N score, greater disability and disease duration, and brain volume decrease. According to multiple regression analysis, the BDI-II score was a significant predictor for most of the neuropsychological tests. Conclusions. Our findings suggest that the presence of depressive symptoms is an important determinant of cognitive performance in MS patients.

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