Journal of Neurology

Rampello, L.; Alvano, A.; Battaglia, G.; Bruno, V.; Raffaele, R.; Nicoletti, F.

doi: 10.1007/s00415-005-0008-8pmid: 16331353

Tic disorders are stereotypic behaviours,more frequent than once believed, and therefore likely to be encountered by primary care physicians. Tics usually begin in childhood and are the clinical hallmark of Tourette Syndrome (TS), the most common cause of tics. TS is a relatively common neurobehavioural disorder with a spectrum of manifestations that wax and wane during its natural course. The pathophysiology of tics, at molecular and cellular level, is still unknown,whereas structural and functional neuroimaging studies have shown the involvement of the basal ganglia and related cortico–striato–thalamo–cortical circuits, and the dopaminergic neuronal system. Moreover, TS has a strong genetic background. The management of TS is often complicated by the presence of attention–deficit/hyperactivity disorder, obsessivecompulsive disorder, and other behaviour disorders. The correct diagnosis is a fundamental step for a proper management of these disorders, and a multimodal treatment is usually indicated. This approach includes educational and supportive interventions, as well as pharmacological treatments when tics are at their worst.

Shams’ili, Setareh; Beukelaar, Janet; Gratama, Jan; Hooijkaas, Herbert; Bent, Martin; Veer, Mars; Sillevis Smitt, Peter

doi: 10.1007/s00415-005-0882-0pmid: 16444604

Anti-CD20 monoclonal antibody (rituximab) is effectively used in the treatment of B-cell lymphomas. Recent reports in the literature suggest that antibody associated autoimmune disorders may respond to rituximab. We therefore treated nine patients with anti-Hu or anti-Yo associated paraneoplastic neurological syndromes (PNS) with a maximum of four monthly IV infusions of rituximab (375mg/m2). In this uncontrolled, unblinded trial of rituximab, three patients improved ≥1 point on the Rankin Scale (RS). One patient with limbic encephalitis improved dramatically (RS from 5 to 1). Further studies of rituximab in autoantibody associated PNS are warranted.

Cuscó, I.; Barceló, M.; Rojas–García, R.; Illa, I.; Gámez, J.; Cervera, C.; Pou, A.; Izquierdo, G.; Baiget, M.; Tizzano, E.

doi: 10.1007/s00415-005-0912-ypmid: 15981080

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects motor neurons. It is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that is present in all the patients, is unable to prevent the disease. An SMN2 dosage method was applied to 45 patients with the three SMA types (I–III) and to four pairs of siblings with chronic SMA (II–III) and different phenotypes. Our results confirm that the SMN2 copy number plays a key role in predicting acute or chronic SMA. However, siblings with different SMA phenotypes show an identical SMN2 copy number and identical markers, indicating that the genetic background around the SMA locus is insufficient to account for the intrafamilial variability. In our results, age of onset appears to be the most important predictor of disease severity in affected members of the same family.Given that SMN2 is regarded as a target for potential pharmacological therapies in SMA, the identification of genetic factors other than the SMN genes is necessary to better understand the pathogenesis of the disease in order to implement additional therapeutic approaches.

Kosta, P.; Argyropoulou, M.; Markoula, S.; Konitsiotis, S.

doi: 10.1007/s00415-005-0914-9pmid: 15981079

D'Amelio, M.; Ragonese, P.; Morgante, L.; Reggio, A.; Callari, G.; Salemi, G.; Savettieri, G.

doi: 10.1007/s00415-005-0916-7pmid: 16021349

In a set of a population– based study, long–term survival of 59 prevalent PD patients was compared with that of individuals free of neurological diseases matched 1:2 by sex and age of enrolment. PD individuals, compared with reference subjects, showed a two–fold increased risk of death (OR 2.1; 95 % CI 1.4, 3.1). Among causes of death, pneumonia and cachexia were significantly more frequent among PD patients than among individuals free of neurological diseases. We confirmed in a long–term follow–up study an increased mortality among PD individuals compared with that of the general population.

Sotgiu, Stefano; Pugliatti, M.; Sotgiu, M.; Fois, M.; Arru, G.; Sanna, A.; Rosati, G.

doi: 10.1007/s00415-005-0917-6pmid: 16021348

Study results from different geographical areas provide some circumstantial evidence that, when compared with the general population, people who later in life develop multiple sclerosis (MS) have a pattern of birth excess numbers in spring and late summer, which may disclose an association with MS–predisposing environmental agents. To identify the presence of season–related cluster of MS birth in Sardinia we have designed a case–control study in the province of Sassari, Northern Sardinia, insular Italy, an area at veryhigh and increasing risk for MS. Mean birth incidence rate of people with MS (810 cases) on a threeand six–months basis were compared with that of two control populations: the MS unaffected siblings (1069), sharing genetic material with patients, and a representative number of births (247,612) of the general population of the study area. We found that the birth in months peaking in spring significantly represents one risk factor for future MS development. This seasonal deviation of MS births reveals an intriguing epidemiological overlap with common environmental agents, which may open a new scenario of hypothetical explanations for environmental factors perhaps affecting the CNS at the crucial time of myelination or shaping the newborn immune system.

Gadoth, N.; Figlin, E.; Chetrit, A.; Sela, B.–A.; Seligsohn, U.

doi: 10.1007/s00415-005-0919-4pmid: 16133729

Diehl, Ph.; Kliesch, U.; Dietz, V.; Curt, A.

doi: 10.1007/s00415-005-0921-xpmid: 16044213

Rosengarten, B.; Paulsen, S.; Molnar, S.; Kaschel, R.; Gallhofer, B.; Kaps, M.

doi: 10.1007/s00415-005-0926-5pmid: 16096820

Tutaj, M.; Marthol, H.; Berlin, D.; Brown, C.; Axelrod, F.; Hilz, M.

doi: 10.1007/s00415-005-0928-3pmid: 16096819

Familial dysautonomia (FD) patients frequently experience debilitating orthostatic hypotension. Since physical countermaneuvers can increase blood pressure (BP) in other groups of patients with orthostatic hypotension, we evaluated the effectiveness of countermaneuvers in FD patients.