Corrado Marchini

Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.

Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency, cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency are present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r=−0.57, p<0.01), muscular disability (r=0.46, p<0.05), intellective quotient (r=−0.58, p<0.01) and short‐term memory (r=−0.59, p<0.01). Therefore, the CTG repeat number has a predictive value only in the case of some clinical manifestations, this suggesting that pathogenetic mechanisms of DM may differ depending on the tissue.

Spontaneous pain, pain threshold, and pain tolerance in Parkinson’s disease

The mechanisms underlying pain in Parkinson’s disease (PD) are unclear. Although a few studies have reported that PD patients may have low pain threshold and tolerance, none could accurately assess whether there was a correlation between sensory thresholds and demographic/clinical features of PD patients. Thus, tactile threshold, pain threshold, and pain tolerance to electrical stimuli in the hands and feet were assessed in 106 parkinsonian patients (of whom 66 reported chronic pain) and 51 age- and sex-matched healthy subjects. Linear regression models determined relationships between psychophysical parameters and demographic/clinical features. Female gender, severity of disease, medical disease associated with painful symptoms, and dyskinesia were more frequently observed in PD patients experiencing pain, even though dyskinesia did not reach significance. Pain threshold and pain tolerance were significantly lower in PD patients than in control subjects, whereas the tactile threshold yielded comparable values in both groups. Multivariable linear regression analyses yielded significant inverse correlations of pain threshold and pain tolerance with motor symptom severity and Beck depression inventory. Pain threshold and pain tolerance did not differ between PD patients with and without pain. In the former group, there was no relationship between pain threshold and the intensity/type of pain, and number of painful body parts. These findings suggest that pain threshold and pain tolerance tend to decrease as PD progresses, which can predispose to pain development. Female gender, dyskinesia, medical conditions associated with painful symptoms, and postural abnormalities secondary to rigidity/bradikinesia may contribute to the appearance of spontaneous pain in predisposed subjects.

Post-malaria neurological syndrome: clinical and laboratory findings in one patient.

Post-malaria neurological syndrome (PMNS) is a rare complication of malaria. It follows recovery from an episode of Plasmodium falciparum malaria and is characterised by symptoms and signs of encephalopathy. Patients usually improve without any specific treatment. The pathogenesis is unknown, but it is probably immunologically mediated. The objective of this case study is to describe the first Italian patient with PMNS. A 60-year-old Italian man developed acute P. falciparum malaria after a stay in French Guinea. Twenty days after recovering from malaria, he became confused, developed generalised weakness, limb tremors, shivering and dizziness. These symptoms continued for three days, then resolved spontaneously. Neuroimaging was normal. Cerebrospinal fluid analysis revealed breakdown of the blood/brain barrier, without oligoclonal bands and normal IgG index. Our patient presented a mild diffuse encephalopathy suggestive of a generic activation of the immune system without any specific reaction against antigens within the CNS.

Neurological complications of tick borne encephalitis: the experience of 89 patients studied and literature review.

Abstract Tick borne encephalitis (TBE) is an acute febrile syndrome that can be complicated with neurological symptoms ranging from mild meningitis to severe encephalomyelitis. The causative agent is a virus belonging to the family of flaviviruses. We have collected a series of 89 patients and compared the clinical course with the main data of the literature of TBE. This review in addition describes the clinical manifestations associated with TBE infections, the main molecular-biological properties of these viruses, and the different factors that define the incidence and severity of disease who are frequently situated in the age group young/adult with a social harm and functional non-negligible. This review also contains diagnostic elements and neuropathological features typical of this infection and a brief summary of vaccination against TBE.

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot-Marie-Tooth disease type 1B (CMT1B). Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. Two sisters aged 41 and 35 years complained of neck pain and presented only pes cavus or deep-tendon hyporeflexia. In both of them magnetic resonance imaging revealed non-enhancing hypertrophy of spinal roots misdiagnosed as neurofibromatosis; neurophysiology disclosed a demyelinating neuropathy and addressed the correct molecular diagnosis. This report adds new data concerning the clinical presentations of MPZ mutations.

Isolated polio-like syndrome after tick-borne encephalitis presenting with acute hyperckemia

Tick borne encephalitis virus infection usually shows a biphasic course. In the first stage of illness symptoms are similar to a flu-like syndrome, then after a defervescence period, fever may represent with neurological manifestations ranging from mild meningitis to severe encephalomyelitis. We report the clinical case of an adult man presented with an acute proximal hyposthenia, severe hyperckemia, clinical and laboratoristic evidence of acute tick borne virus infection. This virus has a favourite tropism for the anterior horn cells of the cervical spine segment. Polio-like syndrome, usually affecting the upper limbs, is the clinical phenotype of an infection of the cervical motoneurons. Usually myelitis is associated to severe encephalitis and a complete diagnosis may be difficult in comatose patients. Rarely, an isolated polio-like syndrome may be the sole neurological complication of tick-borne encephalitis.

Saturday night brachial plexus palsy

An unusual case of brachial plexopathy following an alcohol binge is presented. The patient developed numbness and weakness of his right hand and neurophysiological tests demonstrated that the lesion level was at the brachial plexus. MRI of the brachial plexus, cerebrospinal fluid examination and DNA analysis for hereditary neuropathy with liability to pressure palsies were normal. Repeated neurological examination and neurophysiological studies 60 days later were normal. A diagnosis of brachial plexus neuropathy consequent to non-traumatic stretching of the middle and the lower trunks was made.

Subacute cognitive disorders as initial presentation of intravascular lymphoma: a case report and review of literature

Intravascular lymphoma is a rare subtype of diffuse large B cell lymphoma, characterized by proliferation of mature B cells within the lumina of small and medium vessels of many organs, without parenchymal involvement. The clinical phenotype is extremely variegated; moreover, neurological symptoms such as encephalopathy and focal neurological deficits occur and often coincide with disease’s debut. We described the clinical course of a patient with intravascular diffuse large B cell lymphoma presented with subacute cognitive decline without focal signs, later associated to aspecific general symptoms that rapidly evolved to a severe inexplicable encephalopathy accompanied to systemic failure.

P4.14 Segmental analysis of orthodromic sensitive conduction velocity in distal tracts of tibial nerve with superficial electrodes derivation: normative data

original reference material was based on a relatively small number of subjects and included only medial plantar digital nerves. Objectives: The establish reference models for the plantar digital nerves in healthy subjects using linear multiple regression models. Methods: The plantar digital nerves were studied using monopolar needle electrodes. The recording electrodes were placed proximal to the medial malleolus close to the tibial nerve. The plantar digital nerves were stimulated on the lateral or medial side of the toes. 66 healthy subjects (17 men, 49 women, age 19 75 years) were studied. The medial plantar digital nerves were studied in 61 subjects and the lateral in 37. The study is quite painful and it was not possible to test both lateral and medial branches in all subjects. The temperature was >27 C. The conduction velocity (CV), amplitude (AMP) and durations were studied. Results: Responses could be obtained from all subjects. In most subjects the responses were polyphasic. The amplitudes were not normally distributed and a square root transformation was used. The regression models for each nerve varied somewhat. The regression models for the medial digital plantar nerve to toe 2 were: CV = 42.98 0.13·age (sd = 4.3); AMP= 5.27 0.026·age 1.75·height (sd = 0.43). The CV and AMP to the laterals side of toe 1 were larger than in the other branches. The responses were missing in five branches. Conclusions: The plantar digital nerves can be studied easily in healthy adults. The conduction velocity depends on the age of the subjects. The amplitude is dependent on the age and height of the subjects. Missing responses are probably due to anomalies.