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Biomedical subjects

J Infante

Publications and source records attributed to J Infante.

At least 19 recordsLinked to original sources
PubMed2006

Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study.

OBJECTIVE: To describe a large pedigree with Charcot-Marie-Tooth disease type 1A (CMT1A) duplication in which severe pelvic and thigh musculature weakness occurred in two patients, detected by analysing the leg muscle atrophy pattern on magnetic resonance imaging (MRI). METHODS: The pedigree comprised 18 patients, aged between 15 and 85 (median 46) years, who were serially evaluated for up to three decades. All 18 patients and 13 non-affected at-risk people underwent electrophysiological examination. An MRI study of lower limb musculature was carried out in four patients. Three patients underwent sural-nerve biopsy. Genetic testing was carried out in 17 patients and in all 13 at-risk normal people. RESULTS: Fourteen patients were asymptomatic or slightly disabled. The two oldest patients, aged 84 and 80, showed a moderate phenotype. Two other patients, aged 70 and 53, showed late-onset and gradually progressive peroneal paresis extending up to the thigh and pelvic musculature, resulting in waddling gait. MRI scans of all three patients with a mild phenotype showed subtle and subclinical fatty infiltration of calf anterolateral muscle compartments, with thigh muscle involvement in one patient, and extensive atrophy of intrinsic foot muscles. In the youngest patient with proximal leg weakness, the MRI scan showed massive fatty atrophy of all the calf muscles, posteromedial thigh muscle compartments, and internal and external hip rotator muscles. Sural-nerve biopsy specimens showed hypertrophic neuropathy with no superimposed inflammation. Good correlation was seen between electrophysiological and genetic testing. CONCLUSIONS: Late in the clinical course, a small proportion of patients with CMT1A develop severe proximal leg weakness, and long-term follow-up is essential for its detection. MRI scans may show subclinical involvement of the thigh musculature.

Adolescent↗
PubMed2006

Scale for the assessment and rating of ataxia: development of a new clinical scale.

OBJECTIVE: To develop a reliable and valid clinical scale measuring the severity of ataxia. METHODS: The authors devised the Scale for the Assessment and Rating of Ataxia (SARA) and tested it in two trials of 167 and 119 patients with spinocerebellar ataxia. RESULTS: The mean time to administer SARA in patients was 14.2 +/- 7.5 minutes (range 5 to 40). Interrater reliability was high, with an intraclass coefficient (ICC) of 0.98. Test-retest reliability was high with an ICC of 0.90. Internal consistency was high as indicated by Cronbach's alpha of 0.94. Factorial analysis revealed that the rating results were determined by a single factor. SARA ratings showed a linear relation to global assessments using a visual analogue scale, suggesting linearity of the scale (p < 0.0001, r(2) = 0.98). SARA score increased with the disease stage (p < 0.001) and was closely correlated with the Barthel Index (r = -0.80, p < 0.001) and part IV (functional assessment) of the Unified Huntington's Disease Rating Scale (UHDRS-IV) (r = -0.89, p < 0.0001), whereas it had only a weak correlation with disease duration (r = 0.34, p < 0.0002). CONCLUSIONS: The Scale for the Assessment and Rating of Ataxia is a reliable and valid measure of ataxia, making it an appropriate primary outcome measure for clinical trials.

Adolescent↗
PubMed2006

Necrotizing leukoencephalopathy associated with nonconvulsive status epilepticus and periodic short-interval diffuse discharges: a clinicopathological study.

We describe the clinical, neuroimaging and neuropathological features of an immunocompromised patient diagnosed as having refractory nonconvulsive status epilepticus (NCSE), and whose consecutive electroencephalograms (EEGs) revealed persistent periodic short-interval diffuse discharges (PSIDDs). Prominent subcortical white matter lesions in keeping with the diagnosis of multifocal necrotizing leukoencephalopathy may be neuropathological substrate of NCSE with persistent PSIDDs.

Brain↗
PubMed2006

[Cannabis and cerebrovascular disease].

INTRODUCTION: Drug use is a well-kown risk factor for cerebrovascular disease in young people. Cannabis is the most widely consumed among the illicit drugs worldwide, but it has only exceptionally been associated to cerebrovascular disease. CLINICAL CASE: We here describe 2 young patients (26 and 29 years, respectively) who suffered from ischemic stroke in temporal relation with cannabis consumption. CONCLUSIONS: The review of the literature on this topic reveals another 18 patients with stroke in association to cannabis use. They all were young people with ischemic stroke. Although a causal relationship is difficult to establish due to the widespread use of cannabis, this drug may play an etiologic role in ischemic stroke.

Adolescent↗
PubMed2005

Cholesteryl ester transfer protein (CETP) polymorphism modifies the Alzheimer's disease risk associated with APOE epsilon4 allele.

Cholesterol regulates the production of amyloid beta (Abeta), which is central to the pathogenesis of Alzheimer's disease (AD), with high cellular cholesterol promoting and low cellular cholesterol reducing Abeta in vitro and in vivo. High density lipoprotein (HDL) plays a central role in the removal of excess cholesterol from cells, and cholesteryl ester transfer protein (CETP) is a crucial protein involved in the regulation of HDL levels. Two common polymorphisms in the promoter region (C-629A) and exon 14 I405V of the CETP gene are associated with CETP activity and HDL levels. To investigate if these sequence variants in CETP might be of importance in mediating susceptibility to AD, independently or in concert with apolipoprotein E (APOE) epsilon4 allele, we studied a sample of 286 Spanish AD patients and 315 healthy controls. In APOE epsilon4 carriers, homozygous for the CETP (-629) A allele had approximately a three times lower risk of developing AD (odds ratio 2.33, 95% CI 1.01-5.37), than homozygous and heterozygous carriers of the CETP (-629) C allele (odds ratio 7.12, 95% CI 4.51-11.24, P for APOE epsilon4/CETP (-629) AA genotype interaction < 0.001). Our data suggest that CETP behaves as a modifier gene of the AD risk associated with the APOE epsilon4 allele, possibly through modulation of brain cholesterol metabolism.

Aged↗
PubMed2005

Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis.

INTRODUCTION: The genetic and clinical profile of autosomal dominant cerebellar ataxias (ADCA) displays marked geographical and ethnical variability. MATERIALS AND METHODS: We have analysed the molecular and clinical correlations in an ethnically homogeneous sample of 30 Spanish ADCA kindreds. Minimal point prevalence for the region of Cantabria was estimated. RESULTS: Seventy per cent of the families harboured known mutations. Areflexia, slow saccades and hypopallesthesia predominated in SCA2; nystagmus, pyramidal signs or areflexia restricted to the legs in SCA 3; and retinal degeneration, pyramidal signs and slow saccades in SCA 7. Anticipation and intergenerational instability were greater in SCA 7. Length of expansions and age at onset were inversely correlated in all SCA subtypes. Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in SCA 3 and with early visual impairment in SCA 7. Survival was similar among the different SCA subtypes. Prevalence of ADCA in Cantabria was 1.6 cases per 100,000 population. CONCLUSIONS: This report shows the epidemiological, clinical and genetic profile of ADCA in Spain, providing additional data regarding the broad clinical heterogeneity of these disorders and the variability of the genotype-phenotype correlations.

Adolescent↗
PubMed2002

Progressive cardiomyopathy as manifestation of mitochondrial disease.

Cardiomyopathies are a clinically and genetically heterogeneous group of cardiac diseases in which the myocardium is primarily involved. Mitochondrial DNA point mutations have been identified in a broad spectrum of mitochondrial disorders, which are associated with neurological diseases. However, they also have been reported in patients with cardiomyopathy, either alone or as part of a multisystem disorder. A patient who presented with severe heart failure and was diagnosed as having a mitochondrial A3243G mutation is described.

DNA, Mitochondrial↗
PubMed2002

Candidate gene association studies in sporadic Alzheimer's disease.

The genetics of Alzheimer's disease (AD) is complex. Three genes (amyloid precursor protein, presenilin 1 and presenilin 2) have been described in the relatively rare, early-onset, autosomal dominant familial form of AD. In the common, non-familial (sporadic) late-onset AD, the major known genetic risk factor is the epsilon4 allele of the apolipoprotein E (APOE) gene. However, at least half of the people who develop AD do not carry this allele, and not all people who do carry this allele develop AD even if they live to an old age. Therefore, approximately 30 other candidate genes involving a protein in a critical pathway in the pathogenesis of disease (principally interaction with amyloid-beta, oxidative stress and inflammation/apoptosis) have been considered as risk factors for sporadic AD. Then these genes have been sequenced in search of genetic variability or polymorphisms, and each putative polymorphism has been reported to alter the risk of AD either directly or by an interaction with the APOE epsilon4 allele. However, positive-association studies with these candidate genes have not been consistently confirmed.

Age of Onset↗
PubMed2002

[Hereditary ataxias and paraplegias: a clinicogenetic review].

Hereditary ataxias encompass a series of syndromes basically characterised by progressive cerebellar ataxia of slow clinical course (occasionally, periodic ataxia or spastic paraparesis) and primary spinocerebellar degeneration. The prevalence ratio of these syndromes in Spain is 20 cases per 100,000 inhabitants. Initially the ataxias were classified on the basis of clinicopathological criteria. Starting from the seminal papers by Harding published 20 years ago, a clinicogenetic classification was introduced that has given way to the present molecular classification. There have been localised about forty loci. In dominant ataxias the most frequent molecular defect is a dynamic CAG expansion responsible for abnormal polyglutamine tract transcription. The identification of such molecular defect has made it possible detection of gene carriers in clinical practice, this involving both presymptomatic and prenatal diagnosis; moreover, such molecular discoveries have contributed to develop a new pathogenetic era. A homozygous and intronic GAA expansion is the molecular basis of Friedreich's ataxia. This finding has also made it possible a molecular diagnosis in clinical practice. Molecular studies have demonstrated that hereditary spastic paraplegia is another heterogeneous genetic disorder.

Ataxia↗
PubMed2001

Case-control study and meta-analysis of low density lipoprotein receptor-related protein gene exon 3 polymorphism in Alzheimer's disease.

The low density lipoprotein receptor-related protein (LRP) may influence both the clearance and the production of beta-amyloid peptide and thus plays a role in Alzheimer's disease (AD) pathogenesis. Previous studies, although inconsistent, have suggested that the LRP exon 3 CC genotype contributes to the risk of AD. A case-control study utilizing a clinically well-defined group of 305 sporadic AD patients and 304 control subjects was performed to test this association in an ethnically homogeneous population from Spain. In the current study, the LRP CC genotype was not over-represented in AD patients compared to non-demented controls. A meta-analysis of previous studies revealed a weak correlation of LRP CC genotype with AD (odds ratio of 1.35, P=0.01).

Aged↗
PubMed2001

Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion.

Clinical, electrophysiologic and molecular studies were performed on at-risk members of 14 families with hereditary neuropathy with liability to pressure palsies (HNPP), in order to detect asymptomatic carriers of the 17p11.2 deletion. Sporadic cases due to de novo deletion accounted for 21% of the investigated HNPP families. Approximately one half of deletion carriers were asymptomatic and did not display significant signs on clinical examination. The electrophysiologic hallmark in both symptomatic and asymptomatic deletion carriers was the presence of a nonuniform sensorimotor demyelinating polyneuropathy with conduction abnormalities preferentially located at common entrapment sites and distal nerve segments. A perfect correlation was found between the molecular and electrophysiologic analyses. A reliable screening method to detect clinically unaffected carriers of the deletion in families with HNPP was the evaluation of motor conduction in at least two nerves across usual entrapment sites, especially the ulnar nerve at the elbow, and evaluation of sensory conduction in the sural nerve. In sporadic cases due to a de novo deletion, electrophysiologic studies were suggestive but not sufficient for the diagnosis, and molecular analysis represented the most sensitive diagnostic tool.

Adult↗
PubMed2001

[Neurologic complications of herpes zoster. A retrospective study in 100 patients].

INTRODUCTION AND OBJECTIVES: The neurologic complications associated with herpes zoster are infrequent except for postherpetic neuralgia. The aim of this study was to review the clinical profile and the distribution of these complications in a retrospective series of patients. PATIENTS AND METHOD: A retrospective analysis of the last 100 patients admitted with the diagnosis of herpes zoster with neurologic complications to our center from 1992 to 1999 by the Departments of Internal Medicine and Neurology was performed. The characteristics of the complications other than postherpetic neuralgia are reported. RESULTS: Aside from the 88 patients with postherpetic neuralgia, the 12 remaining patients presented other complications: seven different peripheral neuropathies, including three with Ramsay-Hunt syndrome, two meningitis, one encephalitis and one myelitis. In addition, one patient had ophthalmic herpes zoster with cerebral vasculopathy as ipsilateral Wallenberg's syndrome. Nine patients (75%) were males, four (25%) were under the age of 20 years and seven older than 60 years and only three were immunodepressed. The CSF was abnormal in six out of the eight patients in whom it was studied with lymphocytic pleocytosis being shown on analysis without qualitative or quantitative alteration in intrathecal synthesis of IgG. In the immunosuppressed patients the serology in the CSF of the varicela zoster virus was negative. All patients demonstrated regressive evolution following treatment with acyclovir. CONCLUSIONS: Neurologic complications other than postherpetic neuralgia occurred in 12% of the patients of this series, there was male predominance and peripheral neuropathies were the most frequent complications. Serology of the varicela zoster virus in immunosuppressed patients may be negative. In this series the prognosis was mainly satisfactory.

Adolescent↗