Theory of mind and joint action in Parkinson's disease.

It has been suggested that the Theory of Mind (ToM) may rely on more basic processes of social cognition, such as action control (e.g., joint action), even if little is known about this relationship. The relationship between ToM and joint action can be studied in patients with Parkinson's disease (PD), because they are characterized not only by a deficit in ToM (and in its cognitive and affective subcomponents) but also by a deficit in the inhibition of competing responses. Sixty PD patients and 60 matched healthy controls (HCs) performed a go/no-go Flanker task in both joint and individual conditions. Cognitive (Advanced Test or AT) and affective (Emotion Attribution Task or EAT) ToM also were measured. Thirty-five PD patients and matched HCs also performed the standard Flanker task, as a control measure. In patients, only individuals with high AT scores exhibited a joint Flanker effect, whereas in HCs the joint effect was found irrespectively of AT score. Patients with low EAT scores showed a greater interference effect than patients with high scores, whereas the opposite pattern was found for HCs. In regression analysis AT and EAT scores predicted the Flanker effect in the joint condition only. In the standard task, both groups showed a Flanker effect. The role of different fronto-striatal circuits, especially in PD patients, could explain the different involvement of cognitive and affective ToM in joint tasks. The Flanker effect is discussed considering the referential coding account and the attention-focus account as possible candidates to explain joint action effects.

Study of the porcine dermal collagen repair patch in morpho-functional recovery of the rotator cuff after minimum follow-up of 2.5 years.

Tendon augmentation grafts have the potential to facilitate the repair of massive or otherwise unrepairable rotator cuff tears. In our clinic, between 2009 and 2013, 25 patients underwent surgery to treat massive symptomatic rotator cuff tears with porcine dermal collagen patch. This study is a clinical and instrumental assessment of 9 patients with the longest follow-up. These patients were evaluated with Constant score, the American Shoulder and Elbow Surgeons Evaluation Form, ultrasound imaging, magnetic resonance imaging, and electromyography. The clinical evaluations have shown good outcomes. The magnetic resonance imaging results were comparable with those of the ultrasound scan. In all cases, we found covering of humeral head, centering of the humeral head, maintenance of the tropism of the supraspinatus, no appearance of fatty degeneration, no worse in cases with fatty degeneration. With the electromyographic examination a complete functional recovery was observed with the possibility of performing maximal contraction against resistance in all cases. We believe that porcine dermal collagen is effective as an augmentation graft in the treatment of chronic extensive rotator cuff tears, providing excellent pain relief with an improvement in active ranges of motion and strength.

Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study.

Involvement of the peripheral nervous system in mitochondrial disorders (MD) has been previously reported. However, the exact prevalence of peripheral neuropathy and/or myopathy in MD is still unclear. In order to evaluate the prevalence of neuropathy and myopathy in MD, we performed sensory and motor nerve conduction studies (NCS) and concentric needle electromyography (EMG) in 44 unselected MD patients. NCS were abnormal in 36.4% of cases, and were consistent with a sensori-motor axonal multineuropathy (multifocal neuropathy), mainly affecting the lower limbs. EMG evidence of myopathy was present in 54.5% of patients, again mainly affecting the lower limbs. Nerve and muscle involvement was frequently subclinical. Peripheral nerve and muscle involvement is common in MD patients. Our study supports the variability of the clinical expression of MD. Further studies are needed to better understand the molecular basis underlying the phenotypic variability among MD patients.

Botulinum toxin for the treatment of dystonia and pain in corticobasal syndrome.

BACKGROUND: Dystonia is a key symptom in corticobasal syndrome (CBS), and upper limb dystonia is the most common phenotype. Dystonia-associated pain is frequently reported and can be disabling, with poor benefit from oral treatments. AIMS OF THE STUDY: To investigate the role of botulinum toxin A (BoTNA) in the treatment of dystonia and associated pain in CBS. METHODS: Ten consecutive patients with a clinical diagnosis of probable CBS and dystonia with/without associated pain were treated with BoTNA every 3 months. Treatment efficacy was assessed during the first follow-up visit, three months after the first injection, by means of caregiver impression (CI), evaluation of muscle tone with the Ashworth scale (AS), severity of pain measured with the visual analog scale (VAS). RESULTS: Nine subjects underwent at least three treatments, four patients discontinued for progressive reduction in efficacy or disease progression, five patients are ongoing with good response, and one completed the 10th treatment. No local or systemic side effects were reported, and levodopa equivalent daily dose remained unchanged in most cases during the observational period. Significant improvement of AS was recorded (from 2.9 ± 0.7 to 2.0 ± 0.5, p = 0.003). CI ranged from mild to moderate benefit. All patients reported efficacy on pain, with a significant reduction of VAS score (from 7.7 ± 1.7 to 1.7 ± 0.7 in the Pain group, p = 0.016). CONCLUSIONS: Our study confirms safety, efficacy, and tolerability of BoTNA in the treatment of dystonia associated with CBS. Local treatment should be considered as a valid alternative to oral treatment modulation mainly in the presence of associated pain.

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment.

Capecitabine plus oxaliplatin combination (XELOX) is the first-line treatment in metastatic colorectal cancer. Here we report a case of acute, severe but substantially reversible, neuromuscular and cardiac toxicity following XELOX chemotherapy. Muscle biopsy findings were consistent with a toxic myopathy with necrotizing features and vacuolar changes; COX-negative fibers were also present. The time course could support a main role for capecitabine, which may have some neurotoxic effects (more frequently central), but a detrimental interaction between the two drugs cannot be ruled out and further studies are needed.

The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.

Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis. Its relationship to distal hereditary motor neuropathy (dHMN) type V is underlined by the recent discovery of causative mutation in BSCL2 gene coding for a protein termed seipin, an integral membrane protein of endoplasmic reticulum, with unknown function. Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. The proband developed a severe paraparetic spastic gait, while, in the other Italian families reported so far, no signs of upper motor neuron involvement were observed. This family confirms the clinical heterogeneity associated with this specific mutation. Moreover, this is the first report in which neuroimaging seems to confirm the pyramidal alterations in dHMN associated to SPG17.