Correction to: The Italian Dystonia Registry: rationale, design and preliminary findings.

In the original article, Gina Ferrazzano was affiliated to Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.The corrected affiliation should be: Neuromed Institute IRCCS, Pozzilli, IS, Italy.

The Italian Dystonia Registry: rationale, design and preliminary findings.

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.

Lies tell the truth about cognitive dysfunction in essential tremor: an experimental deception study with the guilty knowledge task.

BACKGROUND: Research conducted in the past decade challenges the traditional view that essential tremor (ET) is characterised exclusively by movement disorder, and increasingly shows that these patients have deficits in cognitive and behavioural functioning. The available evidence suggests that this impairment might arise from dysfunction in either the fronto-subcortical or cortico-cerebellar circuits. Although abnormalities in the fronto-subcortical circuits could imply difficulty in lying, no study has investigated deception in patients with ET. AIMS: To examine the cognitive functions regulating deception in patients with ET, we used a computerised task, the Guilty Knowledge Task (GKT). We also tested a group of patients with Parkinson's disease (PD), a disease associated with a known difficulty in lie production, and a group of healthy subjects (HS). RESULTS: In the GKT for deception, patients with ET responded less accurately than HS (p=0.014) but similarly to patients with PD (p=0.955). No differences between groups were found in truthful responses (p=0.488). CONCLUSIONS: Besides confirming impaired deception in patients with PD, our results show a lie production deficit in patients with ET also. These findings suggest that difficulty in lying is an aspecific cognitive feature in movement disorders characterised by fronto-subcortical circuit dysfunction, such as PD and ET. Current knowledge along with our new findings in patients with ET--possibly arising from individually unrecognised extremely mild, cognitive difficulties--should help in designing specific rehabilitative programmes to improve cognitive and behavioural disturbances in patients.

Combined effects of botulinum toxin and casting treatments on lower limb spasticity after stroke.

Optimal treatment of spasticity requires a combination of pharmacotherapy and muscle lengthening. We evaluated 13 stroke patients with equinovarus foot randomized to treatment with either botulinum toxin A (BTA) injection plus ankle-foot casting (n=6) or BTA alone (n=7). The tibialis posterior and calf muscles (range of BTA injection: 190 to 320 U) were treated in each patient. Castings were worn at night for four months. Each patient was examined before, and at two and four months after BTA injection using the static and dynamic baropodometric tests, the Modified Ashworth Scale and the 10-meter walking test. At two months, therapeutic effects were observed in both groups. At four months, the study group showed further clinical improvement, while the control group returned to baseline performance. Thus, prolonged stretching of spastic muscles after BTA injection affords long-lasting therapeutic benefit, enhancing the effects of the toxin alone.

Neurophysiology of the pelvic floor in clinical practice: a systematic literature review.

Neurophysiological testing of the pelvic floor is recognized as an essential tool to identify pathophysiological mechanisms of pelvic floor disorders, support clinical diagnosis, and aid in therapeutic decisions. Nevertheless, the diagnostic value of these tests in specific neurological diseases of the pelvic floor is not completely clarified. Seeking to fill this gap, the members of the Neurophysiology of the Pelvic Floor Study Group of the Italian Clinical Neurophysiology Society performed a systematic review of the literature to gather available evidence for and against the utility of neurophysiological tests. Our findings confirm the utility of some tests in specific clinical conditions [e.g. concentric needle electromyography, evaluation of sacral reflexes and of pudendal somatosensory evoked potentials (pSEPs) in cauda equina and conus medullaris lesions, and evaluation of pSEPs and perineal sympathetic skin response in spinal cord lesions], and support their use in clinical practice. Other tests, particularly those not currently supported by high-level evidence, when employed in individual patients, should be evaluated in the overall clinical context, or otherwise used for research purposes.

Polio Patients in Northern Italy, a 50 Year Follow-up.

BACKGROUND: Poliomyelitis was before the immunization an important medical problem. Nowadays polio prior patients (PP) suffer from polio sequelae or have developed post-polio-syndrome (PPS) with increasing paresis, pain and fatigue. OBJECTIVES: To analyze the medical situation 50 years after acute polio. The degree of paresis was compared between the recovery 1952-1961 and 2012.The prevalence of patients fulfilling the criteria for PPS was estimated. METHOD: The study was performed in Italy. Included were PP with rehabilitation after acute polio 1952-1961 and in 2012. During the years PP underwent yearly evaluation. A thorough neurological examination was performed in 2012. A telephone interview with questions concerning pain, paresis, fatigue, walking aids and concomitant diseases was performed in 2012. The patients were divided in two groups, if they fulfilled the criteria for PPS or not. RESULTS: Included were 67(94%) patients receiving rehabilitation after acute poliomyelitis and 2012. 78% were walkers, half of the PPS used wheelchair. Eight out of ten suffered from pain. Four out of ten fulfilled the PPS criteria. Pain was slightly more common in PPS. CONCLUSION: Female gender, fatigue and wheelchair dependency were significantly more common in PPS while pain was common in both groups.

Temporal discrimination of somesthetic stimuli is impaired in dystonic patients.

Clinical and experimental evidence documents abnormal somatosensory functions in dystonia. Despite the fact that somatosensory processing is inherently temporal, mainly spatial aspects of somatosensory functions have so far been assessed in dystonic patients. Seven patients with idiopathic dystonia and nine healthy controls were given pairs of non-noxious electrical stimuli separated by different time intervals and asked to report if they perceived single or double stimuli. Somesthetic temporal discrimination thresholds (STDT) were obtained by computing the shortest time interval at which stimuli, applied to the left or the right hand, were perceived as separate. STDT were significantly higher in dystonic than in controls thus showing for the first time that temporal and not only spatial somatosensory processing is altered in dystonia.

Paired transcranial magnetic stimulation for the early diagnosis of corticobasal degeneration.

OBJECTIVE: To investigate cortical excitability in patients with corticobasal degeneration (CBD) and to find a reliable diagnostic technique for differentiating CBD from Parkinson's disease (PD). METHODS: Using a paired transcranial magnetic stimulation technique, we studied motor cortex excitability at rest in 6 patients with clinically probable CBD, 10 patients with PD, and 10 normal subjects. The recovery cycle of the motor evoked potentials was tested by delivering paired magnetic stimulation over the hand area of the motor cortex at interstimulus intervals (ISIs) from 1 to 17ms. RESULTS: In patients with CBD, paired magnetic stimuli delivered at short ISIs invariably elicited enlarged test MEPs. At ISIs of 1-10ms, the conditioned test MEPs were significantly larger in patients with CBD than in control subjects; and at ISIs of 1, 2, 4, and 6ms,they were also larger in patients with CBD than in patients with PD. At the other ISIs tested, patients and control subjects had similar amplitude conditioned test responses. CONCLUSIONS: Our findings suggest that the unusual clinical manifestations of CBD might arise partly from motor cortex disinhibition. Paired magnetic stimulation could be a useful diagnostic test particularly in the early stages of the disease.

Sympathetic skin response asymmetry in early stage idiopathic Parkinson's disease.

Simultaneous bilateral plantar sympathetic skin response (SSR) was studied in 25 patients with early stage idiopathic Parkinson's disease (IPD), characterized by monolateral motor involvement (Hoehn and Yahr, stage <2) and without clinical evidence of autonomic dysfunctions. Thirteen (mean age: 68.69 +/- 7.70, range 55-76) had extrapyramidal clinical signs only at the left body side, 12 (mean age 66.60 +/- 7.43, range 51-73) at the right body side. A group of 25 healthy, age-matched, subjects were also evaluated. To evoke the responses, trains of 10 electrical pulses were applied at different intensities and frequencies. Only intensities of stimulation > or = 5 times the sensory electrical threshold always assured bilateral plantar responses in all the examined subjects. Amplitude asymmetry between left and right responses was found only in the IPD patients (P < 0.05). The amplitude reduction corresponded to the motor affected side. No analogue latency variation was observed in any group. Independently from the peripheral or central origins of such phenomena, these findings suggest that simultaneous bilateral SSR amplitude evaluation could be useful, in early IPD patients, to demonstrate and to monitor the sympathetic cholinergic dysfunction, despite the lack of autonomic symptoms.

HIV-associated PML presenting as epilepsia partialis continua.

Two patients with human immunodeficiency virus (HIV) type 1 infection presented new-onset epilepsia partialis continua (EPC) as an early manifestation of progressive multifocal leukoencephalopathy (PML). EPC occurred with no other seizures and was associated with negative radiographic and electrophysiological findings for several weeks. PML represents an increasingly recognized cause of new-onset seizures in both seropositive and seronegative patients, with no report of EPC as a presenting complaint.

Spinal somatosensory evoked potentials in patients with tethered cord syndrome.

We studied the electrophysiological changes occurring in six patients with tethered cord syndrome. Evidence of spinal malformations was provided by magnetic resonance imaging. The functional assessment of the spinal cord was performed by analysing both spinal and cortical somatosensory evoked potentials. The evoked electrospinogram was recorded from the thoracic and lumbosacral spinous processes. The N22 lumbosacral potential was selectively affected, being rostrocaudally displaced and reduced in amplitude or even absent in patients with neurological signs indicating a segmental lower cord lesion. Inter-peak somatosensory evoked potentials latency was normal in all cases, suggesting that ascending axonal potentials in the dorsal column fibres may be synchronized. Segmental potentials of the lumbosacral response, originating from the post-synaptic activity of dorsal horn interneurons, are selectively affected in this syndrome resulting from the rostrocaudal displacement of the spinal cord due to tethering. Our findings in the clinical field are consistent with previous experimental evidence indicating a different sensitivity of the gray vs. white matter to progressive stretching.

Axillary injection of botulinum A toxin in a patient with muscle cramps associated with severe axillary hyperhidrosis.

Muscle cramps may be caused by fluid and salt loss induced by diffuse or focal hyperhidrosis. Recent reports have described the efficacy of botulinum, toxin in the treatment of primary focal hyperhidrosis. Botulinum toxin inhibits sweating by blocking exocytosis of acetylcholine from presynaptic cholinergic nerve terminals. We report the case of a patient who complained of frequent muscle cramps associated with unusually severe axillary hyperhidrosis. We used botulinum toxin to treat the excessive focal sweating presuming that it would also reduce the muscle cramps. A total dose of 200 MU of botulinum A toxin (Dysport) per axilla markedly reduced sweating and cramps. The beneficial effect started four days after the injection and it was still present five months later. Treatment was repeated in the sixth month with analogous results. No side-effects were observed and no compensatory sweating occurred.

Variability of tibial nerve early cortical potentials in normal subjects.

The aim of the study was to calculate and test the variability of several tibial nerve SEP parameters, particularly scalp amplitude distribution, with a view to obtaining more reliable clinico-electrophysiological correlations. The parameters were evaluated in 20 healthy subjects using a simple, easily reproducible recording method. The absolute latency of the P40 wave was greater than that of the N37 wave, except in two cases. Paradoxical lateralization was present in all subjects. On the basis of the scalp amplitude distribution of the ipsi- and contralateral potentials, three distinct groups were identified: a) dominance of ipsilateral P40, 29 sides; b) dominance of P37, 15 sides; and c) equivalent amplitude of P37 and ipsilateral P40, 5 sides. The individual amplitude values of these potentials were plotted on a normogram. The results suggest that (i) the absence of one or more early cortical SEPs may be considered abnormal; (ii) when SEP scalp lateralization is present, it may be useful to compare the amplitude distribution of the individual components in normal and pathological populations; and (iii) for this purpose, lateralized potentials are more reliable owing to their lower degree of amplitude dispersion.

[Continuous muscular activity. Clinical aspects and neurophysiological differences from Isaacs' syndrome]. / Activité Musculaire Continue. Aspects cliniques et neurophysiologiques differents du syndrome d'Isaacs.

We report a case of continuous muscle activity, unusual from both the clinical and neurophysiological point of views. The neurological examination revealed a continuous rippling of muscles, but limited to the lower part of the face, to the forearm and to the muscles of the thenar eminence. All deep reflexes were normal. Hyperperspiration, spasms and stiffness of abnormal postures were absent. Electromyography displayed continuous motor unit discharges. An abnormal F wave was elicited only from the affected territories. The disappearances of the spontaneous activity and of the F wave occurred not only after the motor nerve block, but also after the block of the afferent sensitive fibres. Therapy with carbamazepine, hydantoin, diazepam and baclofen did not bring improvement.

[Peripheral neuropathy caused by incongruous posture in shoe manufacture workers]. / Neuropatie periferiche da posture incongrue in lavoratori calzaturieri.

Nine cases of local neuropathy are described in shoe-manufacture workers. Clinical and electrophysiological examination excluded diseases such as toxic polyneuropathies due to n-hexane. Specific lesions of the ulnar nerve were located near the elbow where the forced and uncomfortable posture facilitated the compression of the nerve in the cubital tunnel. The severity of the neuropathies ranged from relatively slight, with paresthesia of some of the fingers, to evident hypotrophy of the inter-osseous muscles of the hand. All the 9 cases sewed shoe uppers using sewing machines operating 25 cm above the arm support, thus obliging the operator to work with one or both elbows resting on the support, with the arms and shoe-upper held up. Five cases presented a neuropathy of the right arm, 3 of the left arm, and in one case the lesions were bilateral. The features of the work station are described and the possible promoting factors and the ergonomic pathogenesis of these neuropathies are discussed.

Corticospinal excitability during action observation in task-specific dystonia: a transcranial magnetic stimulation study.

Observation of actions performed by other individuals activates the onlooker's motor system in a way similar to real movement execution. The functioning of this mechanism in the pathological domain is not clear yet. The aim of this study was to explore whether action observation activates the motor system of patients affected by a task-specific form of dystonia, such as writer's cramp. Transcranial magnetic stimulation was applied over the primary motor cortex and motor evoked potentials were recorded from hand (FDI and ADM) and forearm (FCR) muscles at baseline and during observation of actions (grasping and writing) or images. Writing actions could be performed with healthy or dystonic movement patterns. Results showed a highly specific and reversed pattern of activation in the FDI muscle of the two groups. Differences between the two writing conditions were significantly opposite in the two groups: control subjects had higher activation during observation of the dystonic compared to the healthy action, whereas in patients observation of the healthy writing led to higher activation than the dystonic writing. This opposite corticospinal modulation might be explained by a different self-attribution of the observed actions in the two groups.

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

BACKGROUND: Autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4H (CMT4H) manifests early onset, severe functional impairment, deforming scoliosis, and myelin outfoldings in the nerve biopsy. Mutations in the FGD4 gene encoding the Rho-GTPase guanine-nucleotide-exchange-factor frabin were reported in five families. OBJECTIVE: To characterize a novel mutation in FGD4 and describe the related phenotype. METHODS: A 20-year-old woman born of healthy consanguineous parents and affected with early-onset peroneal muscular atrophy underwent standard clinical, electrophysiologic, and pathologic (sural nerve biopsy) investigations. Mutational analysis of FGD4 was performed by direct sequencing of genomic DNA. Transcriptional analysis was done by reverse transcriptase PCR on leukocyte RNA. RESULTS: The proband disclosed a moderately severe, scarcely progressive CMT, markedly slowed nerve conduction velocities, and a demyelinating neuropathy characterized by prominent myelin outfoldings. Mutational analysis disclosed a c.1762-2a>g transition in the splice-acceptor site of intron 14, which was predicted to cause a truncated frabin (p.Tyr587fsX14). CONCLUSIONS: The report confirms genetic heterogeneity of FGD4, demonstrates that CMT4H has variable functional impairment, and suggests that frabin plays a crucial role during myelin formation.

Activation of middle-ear muscles by transcranial magnetic stimulation.

OBJECTIVES: To evaluate the reliability of transcranial magnetic stimulation in eliciting admittance changes due to activation of middle-ear muscles. METHODS: Admittance changes induced by transcranial magnetic stimulation at the inion were evaluated in eight normal subjects, two subjects with prelingual deafness and 22 patients suffering from other otological disorders characterised by absence of acoustic reflex. RESULTS: Responses showed a predominant negative peak in normal ears. Two small positive components, one preceding and the other following the negative deflection, were less consistently elicited. Only a positive wave was detected in otosclerotic subjects. Patients with tympanic membrane perforation or previous tympanoplasty with ossicular discontinuity did not show any response. CONCLUSIONS: Transcranial magnetic stimulation is able to activate both stapedius and tensor tympani muscles. In conjunction with admittance audiometry, it may represent a method of exploring the mechanics of the middle ear when acoustic reflex testing is not reliable. It can be helpful in the confirmation of stapes fixation when a severe to profound hearing loss is present.