Barca E.,Messina University |
Musumeci O.,Messina University |
Montagnese F.,Messina University |
Marino S.,Messina University |
And 6 more authors.
Clinical Genetics | Year: 2016
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 1year 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. © 2016 John Wiley & Sons A/S.
Corallo F.,IRCCS Centro Neurolesi Bonino Pulejo Messina Italy |
De Cola M.C.,IRCCS Centro Neurolesi Bonino Pulejo Messina Italy |
Buono V.L.,IRCCS Centro Neurolesi Bonino Pulejo Messina Italy |
Di Lorenzo G.,IRCCS Centro Neurolesi Bonino Pulejo Messina Italy |
And 2 more authors.
Psychogeriatrics | Year: 2016
Background: Parkinson's disease (PD) is a degenerative disorder that leads to a decrease in cognitive performance and affects patients' quality of life (QoL). The purpose of this study was to investigate the QoL of PD patients and their caregivers in relation to each patient's cognitive impairment. Methods: A total of 60 subjects with idiopathic PD were recruited; all had a primary caregiver. Patients' cognitive abilities were evaluated by the Mini-Mental State Examination, the Activities of Daily Living Scale, and the Instrumental Activities of Daily Living Scale. The 39-item Parkinson's Disease Questionnaire and the 36-item Short Form Health Survey were used to assess the QoL of patients and caregivers, respectively. Results: The Mini-Mental State Examination was a significant predictor of most of the QoL subscales, including mobility, stigma, social support, cognition, and physical discomfort. The Activities of Daily Living Scale and the Instrumental Activities of Daily Living Scale were significant predictors of mobility, activities of daily living, and cognition. Patients' clinical conditions also significantly affected all of the 36-item Short Form Health Survey subscales; predicted physical functioning, bodily pain, vitality, and social role functioning on the Activities of Daily Living Scale; and predicted physical functioning, physical role functioning, and emotional role functioning on the Mini-Mental State Examination. Conclusions: Our results confirm a relationship between PD patients QoL and the perceived burden of their caregivers. Indeed, patients' cognitive impairment strictly correlated to lower QoL scores in both patients and caregivers and is a strong predictor of caregiver stress and burden. These results emphasize the importance of implementing early interventions to prevent or ameliorate caregivers' burnout. © 2016 Japanese Psychogeriatric Society.
Ferlazzo E.,University of Catanzaro |
Gasparini S.,University of Catanzaro |
Beghi E.,Mario Negri Institute for Pharmacological Research |
Sueri C.,Regional Epilepsy Center Bianchi Melacrino Morelli Hospital Reggio Calabria Italy |
And 8 more authors.
Epilepsia | Year: 2016
Objective: Seizures may occur in close temporal association with a stroke or after a variable interval. Moreover, epilepsy is often encountered in patients with leukoaraiosis. Although early post-stroke seizures have been studied extensively, less attention has been paid to post-stroke epilepsy (PSE) and to epilepsy associated with leukoaraiosis (EAL). The aim of this paper is to review data concerning pathophysiology, prognosis, and treatment of PSE and EAL. Methods: We performed an extensive literature search to identify experimental and clinical articles on PSE and EAL. We also conducted a systematic review of risk factors for PSE and EAL among eligible studies. Results: PSE is caused by enhanced neuronal excitability within and near the scar leads. The role played by white matter changes in EAL remains to be elucidated. Meta-analysis showed that cortical involvement (odds ratio [OR] 3.71, 95% confidence interval [CI] 2.34-5.90, p < 0.001), cerebral hemorrhage (OR 2.41, 95% CI 1.57-3.70, p < 0.001), and early seizures (OR 4.43, 95% CI 2.36-8.32, p < 0.001) are associated with an increased risk of PSE. As regards EAL, no prospective, population-based studies evaluated the role of different variables on seizure risk. Studies about the management of PSE are limited. PSE is generally well controlled by drugs. Data about risk factors, prognosis, and treatment of EAL are lacking. Significance: Pathophysiology and risk factors are well defined for PSE but need to be elucidated for EAL. Management of PSE and EAL relies on the clinician's judgment and should be tailored on an individual basis. © 2016 International League Against Epilepsy.