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Background/PurposeHeart rate variability (HRV) is a biomarker of autonomic nervous system (ANS) reaction in persons with severe acquired brain injury (sABI) who undergo a rehabilitation treatment, such as focal muscle vibration (FMV).This study aims to evaluate if and how FMV can modulate HRV and to compare potential differences in FMV modulation in HRV between patients with sABI and healthy controls.Background/PurposeHeart rate variability (HRV) is a biomarker of autonomic nervous system (ANS) reaction in persons with severe acquired brain injury (sABI) who undergo a rehabilitation treatment, such as focal muscle vibration (FMV).This study aims to evaluate if and how FMV can modulate HRV and to compare potential differences in FMV modulation in HRV between patients with sABI and healthy controls.MethodsTen patients with sABI and seven healthy controls have been recruited. Each individual underwent the same stimulation protocol (four consecutive trains of vibration of 5 minutes each with a 1-minute pause). HRV was analyzed through the ratio of frequency domain heart-rate variability (LF/HF).ResultsIn the control group, after performing FMV, a significant LF/HF difference was observed in the in the second vibration session compared to the POST phase. Patients with SABI treated on the affected side showed a statistically significant LF/HF difference in the PRE compared to the first vibration session.ConclusionThese preliminary results suggest that FMV may modify the cardiac ANS activity in patients with sABI.

Carpal tunnel syndrome is the most common entrapment neuropathy, affecting quality of life for many people. Although it is a well recognised condition, new insights into epidemiology, diagnosis, and treatment have emerged in the past 6 years. The availability of disease-modifying treatments for rare systemic disorders associated with carpal tunnel syndrome (eg, amyloidosis) should alert clinicians to these diagnostic possibilities. Besides clinical evaluation and electrophysiology, the role of ultrasonography as a diagnostic tool has been confirmed and new ultrasound techniques have been applied, the clinical use and feasibility of which require further investigation. Surgical and non-surgical interventions are beneficial for the treatment of carpal tunnel syndrome and several treatment options are now available, giving clinicians the possibility to choose the best approach for every patient. New diagnostic and therapeutic techniques require further validation.

Background: This was a multicenter, double-blind, randomized clinical trial to investigate the efficacy of electrical stimulation of denervated muscle (ESDM) on recovery of patients with peripheral nerve injuries. Methods: We enrolled 38 patients with traumatic peripheral nerve injuries with axonal damage and clinical impairment of two muscles, who were randomly treated with real or sham electrical stimulation (ES). Clinical and neurophysiological examinations were performed before treatment, at the end of treatment, and 3 mo posttreatment, by the same physician who was blinded to the ES allocation. Results: All patients improved but there was no significant beneficial effect of ESDM compared with sham treatment. Conclusions: This study failed to demonstrate the efficacy of ESDM for peripheral nerve injuries. However, given the large number of variables related to ES and the heterogeneity in disease etiologies and clinical manifestations, future studies on homogeneous populations using different stimulation protocols may be useful.

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Objective: Polyneuropathy in mitochondrial diseases (MDs) is relatively common and widely investigated, but few data are instead reported about small fibres involvement. Methods: In order to investigate the involvement of small fibres in MDs we performed extensive neurophysiological test (nerve conduction studies; sympathetic skin response; sudoscan) in 27 patients with genetic diagnosis of MD (7 m.3243A > G; 4 m.8344A > G; 9 single mtDNA deletion; 7 multiple mtDNA deletions). Results: NCS showed a polyneuropathy in 11/27 cases (41%). The incidence was very high in POLG1 (100%), m.8344A > G (75%) and m.3243A > G (43%), while only 11% of patients with single deletion had evidence of large fibres involvement. Sympathetic skin response was abnormal only in three patients (one progressive external ophthalmoplegia with single mtDNA deletion; one patient with m.3243A > G mutation; one patient with POLG1 mutation). Sudoscan revealed the presence of an autonomic small fibres dysfunction in 9/27 cases (33%), most of them (7/9) carrying a single mtDNA deletion. Sudoscan data were also confirmed in a sub-group of patients by laser evoked potentials study. Considering only patients with single mtDNA deletion 7/9 (78%) showed abnormal results at sudoscan. Conclusions: Small fibre neuropathy is another feature to investigate in mitochondrial diseases and seems specifically associated with the presence of single mtDNA deletion. Significance: The correct identification through specific neurophysiological tests of small fibres involvement in MDs represents another tile in this challenging diagnosis.

Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. In recent years, several therapeutic interventions, including immunomodulating agents and autologous stem cell transplantation, have shown variable degrees of efficacy in different patients, but no consensus has been reached to allow an effective tailoring of treatments in this severe disease. We performed a retrospective evaluation of clinical, pathological, laboratory, muscle MRI, and follow-up data of SLONM patients diagnosed in the period 2010–2015 in our neuromuscular center. Six patients (three males and three females) were identified. Average time elapsed from the onset of symptoms to referral to the neuromuscular specialist was 23.7 months. Monoclonal gammopathy was detectable in five patients. Nemaline bodies were detected in all the patients, and their abundance correlated with clinical severity. Signs of cardiac involvement were present in all the patients to different extents. Muscle MRI showed a preferential involvement of neck extensors, paraspinal, gluteal, hamstring and soleus muscles. All patients were treated with prednisone and repeated courses of intravenous immunoglobulins, and a favorable outcome was reached in five patients. Our experience confirms that SLONM is clinically characterized by subacute proximal and axial muscle weakness. Time to referral was relatively long and should be reduced with increasing awareness of the disease. Muscle MRI could be of help as a diagnostic tool to identify this potentially treatable myopathy. Cardiac evaluation should be warranted in all SLONM patients to detect subclinical heart involvement.

Peripheral neuropathy in mitochondrial diseases (MDsBACKGROUND AND PURPOSE: Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients. METHODS: To investigate the involvement of the peripheral nervous system in MDs extensive electrophysiological studies were performed in 109 patients with morphological, biochemical and genetic diagnosis of MD [12 A3243G progressive external ophthalmoplegia (PEO)/mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), 16 myoclonic epilepsy with ragged-red fibres (MERRF), four mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), 67 PEO with single or multiple deletions of mitochondrial DNA, 10 others]. RESULTS: A neuropathy was found in 49 patients (45%). The incidence was very high in MNGIE (100%), MELAS (92%) and MERRF (69%), whilst 28% of PEO patients had evidence of peripheral involvement. The most frequent abnormality was a sensory axonal neuropathy found in 32/49 patients (65%). A sensory-motor axonal neuropathy was instead detected in 16% of the patients and sensory-motor axonal demyelinating neuropathy in 16%. Finally one Leigh patient had a motor axonal neuropathy. It is interesting to note that the great majority had preserved tendon reflexes and no sensory disturbances. CONCLUSIONS: In conclusion, peripheral involvement in MD is frequent even if often mild or asymptomatic. The correct identification and characterization of peripheral neuropathy through electrophysiological studies represents another tile in the challenge of MD diagnosis.) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients.

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The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to the infrequent investigation of A8344G mutation in 'pure' mitochondrial myo-cardiomyopathy, representing a bias and a possible cause of syndrome's underestimation. Our study highlights the importance of lactic acidosis and respiratory muscle insufficiency as critical prognostic factors. Muscle and cardiac MRI and brain spectroscopy may be useful tools in diagnosis and follow-up of MERRF.

No abstract available.

Creutzfeldt-Jakob disease manifesting as stroke mimic in a 78-year-old patient: Pitfalls and tips in the diagnosis

Neurological involvement during legionellosis, look beyond the lung

No abstract available

Legionnaires’ disease still represents a relevant cause of all admitted pneumonia cases, with a remarkable average mortality rate. Extrapulmonary manifestations of Legionellosis are frequently described, principally involving the heart, the kidney, the gut, and the central nervous system (CNS). We report a patient with an immune-mediated Legionella pneumophila induced cerebellar dysfunction and corpus callosum lesion (SCC) successfully treated with high dose intravenous immunoglobulins (IVIG).

The hypoglossal nerve is responsible for motor innervation to the intrinsic and extrinsic muscles of the tongue. Nerve nuclei are located in paramedian position in the medulla oblongata from which, anteriorly, the rootlets exit and merge into hypoglossal canal. Emerging from skull base, the nerve passes through nasopharyngeal space near to the internal carotid artery and internal jugular vein; at hyoid bone level, it curves anteriorly and enters the muscle of the tongue. Knowing the anatomy of hypoglossal nerve is fundamental to understand the symptoms and analytically examine the numerous and different pathologic conditions causing nerve dysfunction. Usually tongue weakness is a part of more complex clinical picture: intramedullary lesions generally involve adjacent nuclei or tracts, while peripheral lesions involve other cranial nerves. Instead, isolated hypoglossal nerve palsy is a rare condition. In the most large series on the topic [1], among 100 patients twelve-nerve paralysis was prominent in only 5 cases. As regard etiology, different causes are known: tumors, trauma, carotid artery dissection, infection, multiple sclerosis, dural arteriovenous fistula, Chiari malformation, stroke, surgical and anaesthesiological procedures, kinking of the vertebral artery, radiotherapy [1]. In the patient described here, none of these causes were identified despite of the extensive laboratory and radiological investigations. We then classified this case idiopathic IHP and reviewed the literature as summarized in Table 1. To our knowledge, this is the first report of a possible association between IHP and CD. However, we believe that this condition may be more frequent than is thought. Notably, indeed, in none of the cases above listed and classified as idiopathic IHP, screening tests for gluten sensitivity were made. Neurological complications in CD are well-known. Peripheral neuropathy has been found in up to 49% of CD patients. The most common presentation is chronic dis