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Biomedical subjects

C H Lahoz

Publications and source records attributed to C H Lahoz.

At least 19 recordsLinked to original sources
PubMed2006

Clinical behavior of multiple sclerosis is modulated by the MHC class I-chain-related gene A.

It is well known that certain HLA class II alleles confer an increased risk for developing multiple sclerosis (MS). Recent studies have suggested HLA class I as a region that may also contribute to the development of MS. In this study, we investigated the association between HLA-DR, HLA-B alleles, and major histocompatibility complex (MHC) class I-chain-related gene A (MICA) transmembrane (MICA-TM) polymorphisms and disease progression in 104 MS patients and 116 healthy controls. DR1 was found to be decreased in patients when compared with controls (p(c) = 0.012). Neither HLA-B nor HLA-DR alleles were found to be associated with MS susceptibility. Furthermore, the prevalence of MICA-A5 in patients with relapsing MS was 9% while the prevalence in progressive forms was 42% (p(c) = 0.0015). The extended haplotypes related to MICA-TM5 that were found in our population were DR7-MICA5-B64 (EH 64.1, delta(s) = 0.38), DR4-MICA5-B62 (EH 62.1, delta(s) = 0.28), and DR11-MICA5-B35 (EH35.1, delta(s) = 0.10), but none of them were found to be associated to MS susceptibility or disease progression. Our data could indicate a possible role of MICA-TM in MS prognosis.

Adult↗
PubMed2006

[Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep].

INTRODUCTION: Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. CASE REPORT: 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. TREATMENT: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. CONCLUSIONS: This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age.

Adult↗
PubMed2006

[Light-induced amaurosis fugax].

INTRODUCTION: Internal carotid artery atherosclerotic disease may present with a wide variety of ipsilateral ocular symptoms and signs that can herald a devastating stroke. Asymptomatic retinal emboli, transient monocular visual loss (also known as amaurosis fugax) and central retinal artery occlusion are the most common. CLINICAL CASE: A 66-year-old man presented several spells of monocular light-induced amaurosis fugax related to a severe carotid occlusive disease. Ancillary tests showed an exhausted cerebrovascular reactivity and visual evoked potentials demonstrated an increased latency. Following a carotid endarterectomy the patient remained asymptomatic and ancillary tests normalized. DISCUSSION: Our report supports the theory that light-induced amaurosis fugax occurs on a hemodynamic basis. A prompt recognition of this symptom is critical since symptomatic severe carotid stenosis implies a high risk of ipsilateral stroke.

Aged↗
PubMed2005

[Bickerstaff's encephalitis].

INTRODUCTION: The clinical and radiological findings in a case of Bickerstaff encephalitis are described and the relationship with Miller Fisher and Guillain Barré syndromes are discussed. CLINICAL CASE: Subsequently to a respiratory infection,a 44-year-old male developed external ophthalmoplegia and cerebellar-like ataxia; his condition deteriorated and he suffered consciousness disturbances and absent tendon reflexes were noted. An MRI scan was performed showing a lesion affecting the brainstem. The cerebrospinal fluid (CSF) revealed albuminocytologic dissociation and the presence of oligoclonal bands. He received high doses of intravenous immunoglobulins and five months later, he had completely recovered. A follow up MRI scan demonstrated complete resolution of the lesion. CONCLUSIONS: The initial condition was diagnosed as Bickerstaff brainstem encephalitis (BBE) with overlapping peripheral nervous system semiology. The presence during the acute phase of oligoclonal bands in CSF, which decreased with the clinical improvement, supports the hypothesis than an autoimmune mechanism may function in its pathogenesis. Our case suggests that intravenous immunoglobulins therapy should be considered in patients with BBE.

Adult↗
PubMed2004

Heraldic seizure.

BACKGROUND: The term heraldic seizures indicates epileptic seizures caused by cerebrovascular disease, believed to be triggered by silent ischemia and occurring before a stroke. This fact widens the spectrum of possible interrelations between epilepsy and cerebrovascular disease outside the well known context of post-stroke epilepsy. METHODS: This is a case report of a healthy 67-year-old male who had a new onset epileptic seizure prior to a lobar intracerebral hemorrhage (ICH). This man began to suffer myoclonic jerks in his left arm which progressed to a generalized tonic-clonic seizure. At the emergency area the physical and neurological examination were unremarkable and a CT scan was normal. The next day the patient developed left hemiparesis, hemianopsia and confusion and a new CT scan showed right parietal-occipital ICH. CONCLUSIONS: This case report exemplifies the concept of heraldic seizures, showing a patient who had a focal seizure preceding an intracerebral hemorrhage. Our etiologic diagnostic work led us to a diagnosis of probable amyloid angiopathy. We suggest that cerebral amyloid angiopathy (CAA) may be the underlying cause, since it may be the origin of both the late event (ICH) and the heralding seizures, resulting from concurrent ischemia.

Aged↗
PubMed2001

Early-onset Parkinson's disease associated with a new parkin mutation in a Spanish family.

Mutations in the PARKIN gene are associated with early-onset (juvenile) Parkinson's disease. We analyzed the coding sequence of this gene (exons 1-12) in patients from a family with three affected siblings, born to first-degree consanguineous parents, with an onset before 23 years and foot dystonia as the initial clinical symptom. The three patients were alive without cognitive impairment at ages of 70, 69, and 65 years, showing a marked response to levodopa treatment. A 2 bp-deletion at exon 11 (1276-1277 del GA) was found. The three patients were homozygous for this frameshift mutation, which would introduce a Stop at codon 394. This is a new PARKIN-mutation that would produce a truncated protein, lacking exon 12 and most the 11th. This region includes the C-terminal ring-finger domain of parkin, essential for its function as a ubiquitin-protein ligase. Compared to patients from other families with truncating mutations, our patients had an earlier onset. In addition, the three patients had dystonia at onset. In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom.

Age of Onset↗
PubMed2001

Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate.

Sodium valproate (VPA) is considered the first choice drug in juvenile myoclonic epilepsy (JME). We have analysed the long-term evolution of 22 patients treated from the outset with VPA. The following inclusion criteria were applied: (1) unequivocal diagnosis of JME; (2) treatment should be initiated with VPA monotherapy; and (3) follow-up for more than 5 years. Twenty-two patients (15 females, seven males) were studied and their EEG recordings were analysed. Their mean age was 28 years (range: 20-40 years) and their mean follow-up was 7.7 years (range: 5-17 years). Four of them suffered persistent seizures despite optimal VPA dosage and needed the addition of a second drug (lamotrigine in three cases, clobazam in one case). All of our patients who continued their treatment are seizure-free. VPA effectively controlled all seizures in 80% of patients. The discontinuation of drug therapy lead to a very high rate of relapses. With accurate diagnosis and appropriate therapy, seizures in JME can be effectively controlled. VPA is a very effective antiepileptic drug in controlling the seizures of JME, but many patients relapse after VPA discontinuation. Thus, JME may require lifelong therapy.

Adolescent↗
PubMed2001

[Proliferative granulomatous arachnoiditis: an infrequent form of tuberculous myeloradioculopathy].

Proliferative granulomatous arachnoiditis is an infrequent manifestation of central nervous system tuberculosis. The mortality rate is 30%, and there are functional sequels in almost all patients. We present the case of a 22-year-old woman, immunocompetent that suffered form tuberculous radiculo-myelopathy with fatal evolution, which allowed us to confront neuroimaging and neuropathological findings. Although serial MR imaging illustrated evolution of lesions, autopsy revealed more extensive lesions that those observed in neuroimaging studies. The characteristic pathological lesion was an intradural inflammatory exudate with a global medullar necrosis. Even through duration of medical treatment is still discussed, early diagnosis, complete antituberculous drug regimen and prolonged corticosteroid therapy are essential to avoid fatal evolution as occurred in this case.

Adult↗
PubMed2000

[Drop attacks in patients with partial epilepsy].

BACKGROUND: It is known the presence of sudden falls or epileptic drop-attacks (DA) in patients with partial epilepsy. OBJECTIVE: To review the clinical and electroencephalographic manifestations in our patients with partial epilepsy and DA. PATIENTS AND METHODS: Fifteen patients (9 males/6 females) over 18 years with partial epilepsy and epileptic falls were selected. RESULTS: The mean age was 39 years (24-56 years). The mean age at seizure onset were 13 years (8 months-49 years) for partial seizures and 26 years (2-54 years) for DA. Secondary generalized or not, all patients had complex partial seizures, associated with simple partial seizures in five (34%). All were treated with politherapy, but a good control was not achieved. EEG recordings showed frontal focus in 7, temporal focus in 8, secondary bilateral synchrony in 9, and increase of electroencephalographic abnormalities during sleep in 9. Cognitive and emotional disorders were observed in 8 and 6 patients, respectively. Nine patients suffered from status epilepticus. The causal lesions were connatal encephalopathy in 8 and criptogenic in the other 7. The main consequence of DA was recurrent craneal trauma in 9 patients. CONCLUSIONS: The presence of DA is considered an ominous change in the evolution of a partial epilepsy. It's associated with mental deterioration and emotional disturbances and with drug resistance.

Adult↗
PubMed1999

[Frequency of the APOE-4 allele in Alzheimer's disease and its variation with age in Asturias (Spain)].

BACKGROUND: Patients with late-onset Alzheimer's disease show a higher frequency of the APOE-4 than controls. The usefulness of the APOE genotyping in the diagnosis of the disease is controversial. Recently, an age dependent prevalence of APOE-4 in Alzheimer's disease has been described, with a maximum frequency for patients with an age at onset between 65 and 80 years. Additionally, the APOE-4 frequency in healthy controls is similar among the different age-groups, including healthy octogenarians. These data suggest that APOE-4 determines when and not who will develop the disease. PATIENTS AND METHODS: The APOE genotype was defined following a previously described PCR-protocol. We analysed 120 patients with clinically defined probable Alzheimer's disease and 250 controls from the same Caucasian population (Austrias, Northern Spain). RESULTS: We found a significantly higher frequency of the APOE-4 in patients, compared to controls (p = 0.00001). The prevalence of this allele was 65% among patients with an age at onset 66-70, falling to 36% and 18% in patients younger than 65 and older than 80 years, respectively. The average age (SD) at onset did not differ between the E-44 (69 years), E-34 (73 years) and E-33 (73 years). APOE-4 frequency was similar between the different age-groups of controls, including healthy octogenarians. CONCLUSIONS: In Asturias, APOE genotyping can not be used for the presimptomatic diagnosis of Alzheimer's disease. However, individuals carrying this allele would have a higher probability of developing the disease at an age between 65 and 80 years if they are predisposed (genetically and/or environmentally) to the disease.

Adult↗
PubMed1999

Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease.

An association between a five-base-pair deletion/insertion DNA polymorphism at the alpha(2) macroglobulin gene (A2M) and late-onset Alzheimer's disease (LOAD) has been recently described. We developed a PCR assay to analyze this polymorphism in 190 LOAD patients (older than 65 years) and 400 controls from Spain. Controls were stratified into three groups: <65 years (n = 200), 65 to 80 years (n = 100), and 81 years or older (n = 100). We found a significantly higher frequency of carriers of the D allele in patients older than 81 years compared to controls older than 81 years (p = 0.0012). In addition, the frequency of the D allele was significantly lower in controls older than 81 years compared to controls younger than 65 (p = 0.048). Our work suggests that the D allele confers an age-dependent increased risk to develop late-onset Alzheimer's disease.

Age of Onset↗
PubMed1999

Angiotensin converting enzyme and endothelial nitric oxide synthase DNA polymorphisms and late onset Alzheimer's disease.

OBJECTIVES: Several lines of evidence suggest that the endothelial constitutive nitric oxide synthase (ecNOS) and angiotensin converting enzyme (ACE) may have a role in Alzheimer's disease. ACE is widely expressed in the brain, and a DNA polymorphism at the ACE gene has been linked to the risk for late onset Alzheimer's disease. Nitric oxide (NO) production by microglial cells, astrocytes, and brain microvessels is enhanced in patients with Alzheimer's disease. There is a growing evidence that NO is involved in neuronal death in Alzheimer's disease, and the oxidative stress caused by NO in the brain could be a pathogenic mechanism in Alzheimer's disease. The objective was to determine if two DNA polymorphisms at the ecNOS and ACE genes that have been linked with different levels of enzyme expression, have some effect on the risk of developing late onset Alzheimer disease. METHODS: A total of 400 healthy controls younger than 65 years and 350 patients with Alzheimer's disease (average age 72 years) were genotyped for the ACE and ecNOS polymorphisms. To define a possible role for these polymorphisms in longevity 117 healthy controls older than 85 years were also analysed. Genomic DNA was obtained and amplified by polymerase chain reaction, and genotypes were defined following a previously described procedure. Gene and genotype frequencies between patients and controls were compared statistically. RESULTS: Gene and genotype frequencies for the ecNOS and ACE polymorphisms did not differ between both groups of healthy controls (<65 years and >85 years). EcNOS gene and genotype frequencies were similar between patients and controls. There was a slight but significantly increased frequency of the ACE-I allele among patients with Alzheimer's disease compared with controls (p=0.03; OR=1.28, 95%CI= 1.04;1.58). CONCLUSIONS: The ACE-I allele was associated with a slightly increased risk of developing late onset Alzheimer's disease.

Age Factors↗
PubMed1998

[Familial episodic ataxia type 2. Clinical and genetic study of one family].

INTRODUCTION: Episodic familial ataxia type 2 is caused by mutations in the gene CACNA1A, in chromosome 19p, that codifies part of a calcium channel. We report a family affected by this disease. PATIENTS AND METHODS: Nine members of this pedigree, all of them symptomatic, were seen and followed by us, including a magnetic resonance scan in all the cases but one. We performed linkage analysis to markers close or included in the gene CACNA1A. RESULTS: All of the patients had brief, self-limiting attacks of ataxia, that usually started between the ages of 8 and 12. Other symptoms frequently associated were dysarthria, headache, nausea and somnolence. Only one patient, with severe alcoholic intake, developed progressive ataxia after several years with self-limiting attacks. The remaining cases had nystagmus in lateral gaze as the only abnormality on examination. Acetazolamide decreased or eliminated the attacks in those patients treated. Magnetic resonance scans always showed cerebellar vermian atrophy. Genetic study confirmed linkage to gene CACNA1A. CONCLUSIONS: We emphasize the importance in knowing about this disease, with an easily identifiable clinical and neuroimaging pattern, and an efficient symptomatic treatment.

Acetazolamide↗
PubMed1997

[Intercritical SPECT in drug-resistant partial epilepsy with normal MRI: a study of 33 cases].

We made a prospective study of the intercritical changes in cerebral perfusion using SPECT with 99mTc-HMPAO in 33 adult patients with focal epilepsy which was resistant to polypharmacy and showed normal MR, to evaluate the relationship between these changes and the clinico-electrical focus (FCE) and the clinical features of epilepsy. All SPECT studies (100%) showed one or more areas of hypoperfusion. There was good topographical relationship between the perfusion defects and FCE which coincided exactly in 15 patients (45.4%); was acceptable with FCE identification but with associated defects in 12 (36.4%) and poor, bearing no relation to each other in 6 (18.2%). There was no correlation between a good, acceptable or poor relationship of SPECT-FCE and the age of the patient, time-course of the illness, number of crises, number of drugs or type of treatment given. There were more cases showing poor relationship amongst the pure temporal lobe foci (p < 0.05), but when these were considered together with the fronto-temporal cases, no difference was seen when compared with the extra-temporal cases. There was a tendency to greater secondary generalization of the crises in the group showing a good relationship. There were more cases of a clinical history of previous CNS diffuse lesions (anoxia, trauma or meningitis) amongst those with a poor relationship (83%) but not amongst those with a good relationship (20%, p < 0.05), or an acceptable relationship (25%, p < 0.05). This would seem to suggest that the anomalies found were more a result of the cause of the epilepsy than of the repetition of crises. SPECT should be included in the diagnostic algorithms of focal epilepsy with normal.

Adult↗
PubMed1994

[Janz's juvenile myoclonic epilepsy: a little-known frequent syndrome. A study of 85 patients].

BACKGROUND: Juvenile myoclonic epilepsy (JME) constitutes 10% of all epilepsies. Despite this syndrome being well defined, its diagnosis is usually delayed. The aim of this study was to analyze the clinical and electroencephalographic characteristics to facilitate guidelines to contribute to its recognition. METHODS: From January 1986 to July 1993 the clinical and EEG data of 85 patients with JME were prospectively studied. In 68 cases (80%) the polygraphic study of sleep was also analyzed during a nap period. RESULTS: The series included 44 males and 41 females of a mean age of 28 years (range: 13-63). Fifty-six percent of the cases showed family history of epilepsy and/or febrile convulsions. All the patients had myoclonic crisis with the age of 15 being the mean age of initiation (range: 8-27). Eighty-seven percent also had generalized tonic-clonic crisis and 18% typical absences. Myoclonias were presented daily up the administration of adequate treatment in 60% of the cases with 21% having myoclonic status. The mean interval from the initiation of the myoclonic crisis to diagnosis of JME was of 10.6 years. On monotherapy with valproic acid and following a mean follow up period of 23.8 months, 86% of the patients remained free of crisis. Nonetheless, the rate of recurrence was 100% in the 19 patients who discontinued the treatment. Surveillance EEG was normal on some occasion in 88% of the cases. The most characteristic paroxysms were the following: wave-point at 4-5 Hz and generalized rapid wave-polypoint. Light stimulation provoked a paroxysmal response in one third of the cases. Sleep EEG was abnormal in all the patients. An activation of the paroxysms during non-REM sleep in 78% of the cases and on waking up in 25%. CONCLUSIONS: Juvenile myoclonic epilepsy is a well defined syndrome. Its diagnosis is based on directed anamnesis allowing myoclonic jerks to be collected which often remain unperceived, and EEG exploration with sleep tracing in which the characteristic outbreaks of wave-point or generalized rapid wave-polypoints may be discovered.

Adolescent↗
PubMed1994

[Meningeal carcinomatosis. Review of 30 cases].

The clinical features of 30 patients with carcinomatous meningitis caused by solid tumors are reported. The most common originating sites of tumors were lung (12 cases) and breast (9 cases). Headache was the most common presenting symptom and there was involvement in more than one level of neuro-axis in 53% of cases. The CSF from the first lumbar puncture was abnormal in all cases; pleocytosis and an increased protein level in CSF were of great diagnostic value when a positive cytology was absent. Only three patients were treated with intrathecal chemotherapy, with a median survival of six weeks since the onset of symptoms.

Adenocarcinoma↗
PubMed1993

[Drug-resistant focal epilepsy with normal cranial CT. Electroclinical correlation and magnetic resonance in 45 patients].

Forty-five patients between 15 and 60 years of age with pharmacoresistant focal epilepsy of more than 4 years duration with normal cranial CT were analyzed. Magnetic resonance and sleep EEG were performed. In 82% of the patients epilepsy had initiated prior to 20 years of age with 89% having partial complex crises and 75% also having secondary generalized crises. EEG demonstrated abnormalities in the temporal lobe in 78% of the cases. Activation of the abnormalities was observed during REM sleep in 24% of the patients. MR was pathologic in 38%, with the most frequent finding corresponding to a sole hyperintense T2 signal (76%). A good correlation was observed between the electroclinical findings and MR in 72% of the cases with pathologic MR. Most of these patients should, thus, be considered as candidates for surgical evaluation of their epilepsy.

Adolescent↗