[Vertebrobasilar dolichoectasia].

Objective: Vertebro-basilar dolichoectasia is an anomaly which has been well-known since the earliest days of clinical neurology. In spite of this neither the mechanism by which it is produced not its clinical importance are fully defined. In this paper we review basic clinical aspects of this pathology.

Persistent cortical blindness after cyclosporine leukoencephalopathy.

Cyclosporine A (CyA)-related cortical blindness is an uncommon complication of CyA therapy in patients undergoing liver transplantation. Characteristically, neurological symptoms associated with CyA treatment usually regress after cyclosporine withdrawal. We present a case of a liver transplant recipient in whom discontinuation of CyA therapy has resulted in only partial clinical improvement, and cortical blindness remains after 1 year of follow-up.

[Adverse reactions to insulin].

The prevalence of allergic reactions to insuline has decreased during the last few years. Probably this is due to the use of the newly-developed recombinant human insuline. At present, adverse reactions to insuline occur in 5-10% of patients on therapy with insuline.

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation. We have analyzed the GAA repeat in 104 FA patients and 163 carrier relatives previously defined by linkage analysis.

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited peripheral neuropathies. The most prevalent mutations are a reciprocal 1.5-Mb duplication and 1.

[Transitory episode of laughter as the initial symptom of an ischemic stroke].

Introduction: Pathological laughter occurs in pseudobulbar paralysis, in psychiatric disorders and as a sign of convulsions (gelastic crisis). An extremely rare form is the "fou rire prodromique' a pathological episode of laughter preceding a stroke. The pathogenesis is unknown and classically differentiated from gelastic crises.

Prognostic factors in endometrial carcinoma: risk groups and adjuvant radiotherapy.

Prognostic factors for disease-free survival in patients with endometrial carcinoma have been retrospectively assessed in 611 cases diagnosed, treated and followed at our institution between 1971 and 1990. Age, symptoms, comorbidity, FIGO clinical stage, and hysterectomy, as well as size and location of the tumor, histologic type, FIGO grade, myometrial invasion, lympho-vascular invasion, and final surgical stage have all been evaluated by univariate and multivariate methods. A mathematical predictive model has been applied to define risk groups, and the applied adjuvant treatments have been evaluated according to these groups.

Lithium-induced Creutzfeldt-Jakob syndrome.

a 67-year-old man with bipolar disorder developed a Creutzfeldt-Jakob like syndrome during lithium carbonate treatment. Lithium serum level was within the therapeutic range. Complete clinical-electroencephalographic recovery was achieved after lithium therapy was discontinued.

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Friedreich ataxia is an autosomal recessive neurodegenerative disorder. The genetic homogeneity to the FRDA locus on chromosome 9q13-21.1 has been observed in families from different ancestries.

Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.

Haplotype analysis is a powerful approach to understand the spectrum of mutations accounting for a disease in a homogeneous population. We show that haplotype variation for 10 markers linked to the Friedreich ataxia locus (FRDA) argues in favor of an important mutation homogeneity in the Spanish population, and positions the FRDA locus in the region where it has been recently isolated. We also report the finding of a new single nucleotide polymorphism called FAD1.

[Celiac disease with occipital calcifications: 2 late cases].

The association of celiac disease, epilepsy and occipital calcifications with initial clinical manifestations of epilepsy during the first two decades of life with an often progressive and variable course and clinical expression of malabsorption has recently been described. Two cases of celiac disease with occipital calcifications and a presentation with neurologic symptoms in adulthood are reported. The first case is that of a 40-year-old male who presented recurrent and alternating pure brachial monoparesis and later acute abdominal pain following which celiac sprue was diagnosed.

Parapneumonic effusions secondary to community-acquired bacterial pneumonia in human immunodeficiency virus-infected patients.

The purpose of this study was to determine whether the clinical and microbiological characteristics of parapneumonic effusions in patients with community-acquired pneumonia (CAP) infected with the human immunodeficiency virus (HIV) were different from those observed in patients without HIV infection. One hundred and thirty seven patients with parapneumonic effusions were included and divided into two groups depending on whether they had HIV infection or not. The parapneumonic effusion rate was significantly higher in HIV-positive than in noninfected patients (21 vs 13%).

[New forms of Parkinsonism in hospice care].

Parkinson's disease is a well known phenomenon with characteristic evolution and clinical picture although having considerable variation in its presenting symptoms. From an extra-hospital consulting room we carried out a study of the characteristics of the clinical presentation of parkinsonisms in a series of one hundred cases so diagnosed from onset. The average age of the patients was around 66 years with a slight female predominance.

Morphometric characterization of normal and abnormal human zygotes.

Human zygotes (n = 278) from 96 in-vitro fertilization gonadotrophin-stimulated cycles were photographed in their pronuclear stage (16-18 h post-insemination). Normal morphological fertilization (two pronuclei) was observed in 215 zygotes, 17 showed only one pronucleus, 40 showed three pronuclei and six showed four. Area, perimeter and maximum and minimum diameters of each zygote and pronucleus were measured using an IBAS 2000 (Kontron) image analyser.

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].

Background: The Charcot-Marie-Tooth (CMT) disease or hereditary motor-sensitive neuropathy (HMSN) is the most frequent hereditary neuropathy. The demyelinated or type 1 form (CMT1) is the most frequently presented, commonly being of a dominant autosomic inheritance. CMT1 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1,500 kb in the CMT1A locus of chromosome 17p11.

Subacute mucormycosis with secondary internal carotid occlusion: clinical and MR findings.

A case of subacute mucormycosis with a cavernous sinus syndrome and internal carotid occlusion with survival after surgical and anfothericin B treatment in a patient with type II diabetes is reported. The RM images of this form of evolution of the infection by mucormycosis is also described. We suggest that a mucormycosis with subacute profile is possible in a well controlled patient with an underlying inmunosuppressive disorder, and that this form of mucormycosis should be considered in the differential diagnosis of the destructive lesions of the middle line, as a prompt identification of this disorder can improve the survival rate of patients.

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.

Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis.

Epidemiological studies performed directly on the population show a prevalence of Friedreich's ataxia (FA) from 1 to 4.7 cases/100,000 inhabitants. An indirect epidemiological approach can be achieved using genetic methods like consanguinity studies to determine the frequency of a mutated gene and the incidence of certain diseases in the population.

Desmoplastic fibroma of the skull. Case report.

Desmoplastic fibroma is a rare benign neoplasm of bone; only three cases have been reported involving the skull. The radiographic and histological aspects of a case of desmoplastic fibroma involving the parietal bone are reported.