[Vitiligo with Koebner phenomenon in a patient with multiple sclerosis treated with alemtuzumab]. / Vitiligo con fenomeno de Koebner en una paciente con esclerosis multiple tratada con alemtuzumab.

TITLE: Vitiligo con fenomeno de Koebner en una paciente con esclerosis multiple tratada con alemtuzumab.

[Clinical features of familial Creutzfeldt-Jakob disease and the E200K mutation in Spain]. / Características clínicas de la enfermedad de Creutzfeldt-Jakob familiar y mutación E200K en España.

INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is an infrequent pathology affecting the central nervous system (about 1/1,000000) that has a subacute progression and, for the time being, a fatal prognosis. The familial forms account for between 5-10% of cases and one of the most frequent is that produced by the E200K mutation of prion protein gene (PRNP), which has not been reported in Spanish families although Spain is considered to be part of the expansion circuit of the mutation. CASE REPORTS: We report on a Spanish family with three cases of CJD. The disease affected three females (our patient and two paternal aunts), who started with dementia, myoclonias, gait disorders and cortical blindness at the ages of 61, 53 and 55 years. Progress in all three cases was torpid and the symptoms advanced in a short time. Results of the complementary tests that were carried out were normal, except for the electroencephalogram, which was compatible with CJD in all three cases, and the imaging tests, which revealed cortical-subcortical atrophy. A confirmatory diagnosis was reached from a biopsy, the clinical picture and the family history in the cases of the paternal aunts and from a genetic study of our patient, which confirmed the E200K mutation. CONCLUSIONS: This family confirms the presence of familial forms of CJD in Spain, more specifically the E200K mutation, and highlights the role of Spain in the possible transmission of this mutation.

[Autosomal dominant compelling helio-ophthalmic outburst syndrome (photic sneeze reflex). Clinical study of six Spanish families]. / Síndrome de estornudos heliooftálmicos compulsivos autosómico dominante (reflejo fótico de estornudo). Estudio clínico de seis familias españolas.

INTRODUCTION: Sneeze is an ubiquitous phenomenon that happens to everyone. In spite of this, little attention has been paid to it, among medical literature in general, and even less in neurologic texts. A curious entity, called autosomal dominant compelling helio-ophthalmic outburst syndrome, has been scarcely described in the scientific literature. This reflex appears when subjects are exposed suddenly to intense sunlight and it consists of long incoercible sneeze bursts. There are no publications on this subject among the spanish literature.and intensity increase with time. OBJECTIVE: To study the clinical and physiological features of the reflex in Spanish families. PATIENTS AND METHOD: Affected subjects were identified by personal interview and given a questionnaire drawn up for this study. Besides, they were instructed to give the questionnaire to their relatives.and intensity increase with time. RESULTS: All the six families showed a high-penetrance, autosomal dominant inheritance. The reflex had a high consistency, a latency about 3 seconds, an intersneeze interval of 2 seconds and a frequency of 2-3 sneezes/ burst. Refractory period was long.and intensity increase with time. DISCUSSION: Our study suggest a higher consistency, shorter latency and lower age of onset of the reflex in our patients than general population, and that frequency and intensity increase with time.

[The efficiency and cost-utility ratio of interferon beta in the treatment of multiple sclerosis in Andalusia]. / Eficiencia y relación coste-utilidad del interferón beta en la esclerosis múltiple en Andalucía.

INTRODUCTION: The availability of the interferon beta in its three forms at the moment available in our country and of glatiramer acetate has marked a point of flexion in the natural history of multiple sclerosis (MS), but the high cost of these treatments cause that its use is questioned. In this work we have studied the effectiveness and efficiency of the processing with interferon beta, and the cost-utility of these treatments in MS in Spain has been also analyzed. PATIENTS AND METHODS: For this work we studied 102 patients affected of RR MS, treated with the three interferons beta which we have available in our country. We used as control 330 patients who had participated in the pivotal clinical interferon trials with both interferon beta 1a. In these patients in addition to effectiveness data, we have studied the disability measured as area below curve and the quality of life (AVACs). We also calculated the economical costs, considering the relation cost-utility in our country. RESULTS: Besides to confirm the data of effectiveness of three interferons, in this study a saving of 23 days/year is demonstrated what corresponds to 0.063 AVACs. The additional cost of interferons is greater than the avoided cost until the fifth year of treatment in which the tendency is reversed in favor of the group of treated patients, if we assume that the same effectiveness that we found in the first years is maintained in the long term. CONCLUSION: The use of the treatment with interferon beta is justified by its effectiveness, efficacy and efficiency. The additional cost of the treatment will be compensated in the long term if the effectiveness of the interferon beta is maintained.

[Neuropsychological disorders in amyotrophic lateral sclerosis. Don't they exist or do they just go undetected?]. / Alteraciones neuropsicológicas en la esclerosis lateral amiotrófica. No existen o no se detectan?

AIMS: The aims of this paper is to demonstrate the existence of neuropsychological disorders in amyotrophic lateral sclerosis (ALS) and to perform an in depth study of the cognitive functioning of the prefrontal lobes. PATIENTS AND METHODS: A neuropsychological study of 14 patients with ALS was conducted using an extensive battery of tests and were compared with a group of 14 healthy controls. Both groups were homogeneous as regards age, sex, education and manual dominance. In this clinical and research study, as well as the neuropsychological variables (subtest of the Barcelona PIEN Test neuropsychological battery), we also took the evolution of the disease, the age and neurological clinical features of the patients suffering from ALS into account. RESULTS: We found neuropsychological disorders in the ALS patients that were centred, either directly or indirectly, on functions of the prefrontal lobe, and in particular of the dorsolateral and premotor cortices, which had already been observed in other research work. No memory disorders were found, something which is usually mentioned in studies about neuropsychological disorders in this type of patients. CONCLUSIONS: Apart from the primary motor zones affected in ALS, there appears to be a degenerative process in most of the frontal lobe, and there is a need for longitudinal studies of the possible progressive disorders of the frontal lobe in these patients. This is difficult, since these patients end up with serious neurological alterations which prevent a correct neuropsychological exploration from being carried out cognitively, and hence no conclusions can be drawn either

Intrathecal IgG synthesis: marker of progression in multiple sclerosis patients.

OBJECTIVES: We study the power of IgG synthesis value as a marker of disease activity in multiple sclerosis (MS). MATERIAL AND METHODS: Link index was calculated in 202 MS patients. Time between first, second and third attack and progression index (PI) were compared in patient with normal (NLI) high (HL) or very high Link index (VHLI). RESULTS: Secondary progressive (SP) patients had a higher LI than relapsing-remitting (RR) and primary progressive (PP) courses (1.10 +/- 0.5 for SP vs 0.86 +/- 0.5 for RR and 0.81 +/- 0.5 for PP, P=0.01 and 0.03, respectively). Having a HLI in MS RR and SP patients has no time effect in the development of the second and third attack. PI was higher in patients with VHIL (0.67 +/- 0.7) vs patients with NLI (0.42 +/- 0.4, P=0.008) and with HLI (0.39 +/- 0.3, P=0.001). CONCLUSIONS: This study confirmed that LI is a good marker of subsequent progression of MS.