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Hereditary motor and sensory neuropathies (HMSN) often present a set of challenges on the electrophysiological diagnosis. Genetic tests are available for most of the subtypes, but electromyography (EMG) still plays a fundamental role in diagnosis. Despite classic division into demyelinating and axonal, many forms of Charcot-Marie-Tooth (CMT) are not easy to diagnose, and ultrasound (US) can make this distinction a bit easier. The presence of an underlying neuropathy can complicate diagnosis of overlapping entrapment syndromes. Were investigated 5 patients with HMSN type I (CMT Tipe I) (3 M and 2 F, mean age 53 ± 7.4 aa). As control we adopted data of healthy volunteers from our laboratory matched for age and sex. We used Telemed Echo-wave II, with patients lying on a bed or sitting in a wheelchair; cross section area (CSA) of the nerve trunks was measured. Average sizes of nerves were increased in upper limbs and nerve US provided information on type of neuropathy. Literature datas concerning US are still limited, but is desirable, in future, to implement US as a complementary diagnostic tool in the assessment of different kind of neuropathies.

Primary Lateral Sclerosis (PLS) is an adult-onset neurodegenerative disorder due to a selective loss of precentral pyramidal neurons. Our purpose was to evaluate preferential impairment of pyramidal tract to bulbar muscles in patients with PLS and identify a valuable electrophysiological method to help clinicians in the differential diagnosis from Amyotrophic Lateral Sclerosis (ALS). We recorded Motor Evoked Potentials (MEPs) from tongue and anterior tibialis muscles in six patients with PLS and compared the results, in terms of Central Motor Conduction Time (CMCT), amplitude of MEPs and duration of controlateral silent period (cSP), with those obtained both from ten age-matched healthy volunteers and ten patients affected by ALS. For lower limbs, CMCT resulted significantly increased in PLS and ALS samples compared with healthy subjects ( p p =0.417). Instead for tongue's recordings, CMCT, absolute amplitude of MEPs and cSP were significantly altered in PLS patients towards both ALS patients and healthy volunteers. Altogether tongue's MEPs are selectively impaired in PLS. This technique could be helpful for the diagnosis of PLS and to differentiate patients with PLS from those affected by upper motor neuron-predominant variants of ALS.

Photosensitive epilepsy (PE) is a form of epileptic seizure induced by several powerful visual stimuli. Cortical mechanisms underlying paroxysmal activity have been widely studied in several ways. Here, we employed rTMS in an attempt to disclose the role of callosal input in modulating cortical visual excitability in both healthy subjects and PE patients. We enrolled 10 healthy subjects (5 males and 5 females; mean age 16.8 ± 3.4 yrs) and 5 patients (15.9 ± 4.2 yrs). Visual evoked potentials (VEPs) triggered by grating stimuli of different contrasts were recorded before and after functional inactivation of the occipital cortex of one hemisphere via off-line low-frequency repetitive transcranial magnetic stimulation (rTMS; 0.5 Hz stimulation for 20 min). VEPs were recorded in V1 before (T0), immediately after (T1) and 45′ following the end of rTMS (T2). We found that low-frequency rTMS had an inhibitory effect on VEP amplitudes at all contrasts in the treated side in controls and patients. Reduction of VEP amplitudes in the inhibited hemisphere at T1 was accompanied by an increase in VEP amplitudes in the contralateral side at mid-high contrasts (50–90%) in healthy subjects ( p p p

Head trauma is a common cause of smell impairment; depending on its severity anosmia might occur in most of cases. Traumatic olfactory impairment is consequent to the severity of the mechanical distress that principally affect the peripheral olfactory area such as olfactory sensory neuron (OSN) axon; mainly olfactory bulb, olfactory tract and rarely the central areas of olfactory projection. A subject with a traumatic anosmia was followed over a year, from the trauma, by using new psychophysical tests (threshold, discrimination, identification), developed for Italian population, EEG and Volatile Organic Compounds analysis. The olfactory threshold, discrimination and identification are respectively 6.33 ± .33se dilution step, 47% and 27% at the time of the trauma; two months later were improved at 5 ± 1 se, 53% and 52.5%; lastly, one year later, were 4.33 ± .33 se, which is normal for age matched category, 100% and 93%. The EEG and VOC recordings similarly showed the recovery of response to odorants. A short term olfactory impairment is represented by the time required to the OSN regeneration. Because of a growing interest in the investigation of smell disorders in research and clinical practice a tool for the assessment of the olfactory function is essential.

WCN 2013 No: 834 Topic: 36 — Other topics Sleep disturbances and risk of arterial hypertension and stroke in the 25–64 year old female population in Russia: WHO program “Monica–Psychosocial” study V. Gafarov, D. Panov, E. Gromova, I. Gagulin, A. Gafarova. Collaborative Laboratory of Cardiovascular Diseases Epidemiology SB RAMS, Russia; FSBI Institute of Internal Medicine SB RAMS