Biomedical subjects

E Lezcano

Publications and source records attributed to E Lezcano.

7 recordsLinked to original sources

PubMed2005

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene. METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative condition. Thirteen patients were examined and eight autopsies were performed. RESULTS: Mean age at onset was 48 years. Mean disease duration was 6 years. Dysarthria often heralded the disease. All cases had parkinsonism and pyramidalism and half of them had amyotrophy. Behavioral or personality changes were not a prominent feature. Cognitive decline appeared late in the evolution. Neuropathologically, a massive degeneration of the substantia nigra without Lewy bodies was a constant finding. A variable degree of frontotemporal atrophy was found. Corticospinal tract degeneration and anterior horn neuron loss were present in six of seven autopsies in which the spinal cord was examined. An extensive deposition of abnormal tau protein in a mixed pattern (neuronal, glial) was observed. Pick's bodies were not seen. Biochemical analysis of tau revealed two bands of 64 and 68 kDa. CONCLUSION: Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.

Adult↗

PubMed2004

Improvement in quality of life in patients with advanced Parkinson's disease following bilateral deep-brain stimulation in subthalamic nucleus.

In this article we investigate the changes observed in the scales that quantify the quality of life (PDQ-39) in patients that have already completed 1 and 2 years of bilateral subthalamic stimulation (DBS-STN). Fourteen patients were evaluated 1 year after DBS-STN; the evaluation was repeated on 11 of them, 2 years after surgery. All of them suffered from Parkinson's disease with a 14.3 (+/-5.7) years history of motor complications. Patients were selected according to CAPSIT criteria. All of them were implanted bilateral electrodes in the subthalamic nucleus. The parameters applied were UPDRS II, UPDRS III, PDQ-39, and the scale of quality of life for caregivers (SQLC). Scorings in motor scales (UPDRS III) improved 45% in relation to the first year, and 48% in relation to the second year (P < 0.001). Patient's quality of life (PDQ-39 summary index) improvement was 62% 2 years after surgery (P < 0.001), and caregivers' quality of life improvement was 68% (P = 0.002) by the same time. DBS-STN is a therapy that efficiently improves the quality of life of selected patients with Parkinson's disease. This improvement is still present 2 years after surgery and has a positive impact on caregivers quality of life.

Aged↗

PubMed2004

[Baroreflex failure after chemodectoma resection].

Baroreflex failure after chemodectoma resection We present a case of baroreflex failure secondary to a unilateral injury of the glossopharyngeal nerve. The patient was operated for a left-sided chemodectoma in the carotid body. Some months after surgery she started to report presyncopal episodes exacerbated by mental stress and when standing up. During these episodes, the patient presented hypertensive crises and tachycardia. However, blood pressure was below normal ranges at rest. The diagnosis was baroreflex failure secondary to unilateral injury of the glossopharyngeal nerve. The case reported herein illustrates the fact that the presence of a bilateral injury is not essential for the occurrence of this disorder.

Aged↗

PubMed2003

[Neuropsychological changes and bilateral subthalamic deep brain stimulation in Parkinson's disease].

INTRODUCTION: To investigate neuropsychiatric changes in Parkinson's disease (PD) patients after 12 months of bilateral subthalamic deep brain stimulation (DBS-STN). SUBJECTS: Nine out of 23 patients with PD subjected to DBS-STN were included. The mean follow-up of this cohort was 12 months, mean disease duration 14.2 5.5 years and mean UPDRS motor score in < > 43.2 13.7. METHODS: Patients were selected on the basis of CAPSIT criteria. They underwent bilateral implant of stimulators in STN under stereotactic conditions. Quality of life scale (PDQ 39), depression scale (Brev-Cet), frontal function test (Stroop, Wisconsin, verbal fluency) and memory evaluation (Barcelona test) were monitored at baseline in < > medication and after 12 months in < > medication/< > stimulation. RESULTS: The patients' motor scores improved on an average of 40.2 % (p = 0.0002) in < > medication situation and 58 % in quality of life scores. We observed a benefit in depression scores (52 %, p = 0.003). Immediate verbal memory improved as well, 25 % (p = 0.04) in recall memory and 14 % (p = 0.02) in recognition memory. No changes were observed in visual memory, verbal fluency and/or global cognitive tests. CONCLUSION: DBS-STN in PD patients seems to be an effective tool for improving their quality of life, due to its benefits on motor function, verbal memory and mood. Bilateral DBS-STN did not affect either verbal fluency or executive functions in our patients. Neuropsychological assessment is a good tool for selection and study of the operated patients.

Activities of Daily Living↗

PubMed2003

[Bilateral subthalamic nucleus deep-brain stimulation (STN-DBS) in Parkinson's disease: initial experience in Cruces Hospital].

INTRODUCTION: Clinical outcomes of Parkinson's disease patients treated for 12 months with STN-DBS were analyzed. PATIENTS ADN METHODS: Twelve patients were selected using the CAPSIT protocol criteria and placement of electrodes in the appropriate target was performed according to results of fusion image techniques and intraoperative microrecording. RESULTS: A reduction in motor UPDRS (44 %) and activities of daily living (58 %) scores during < > phases were observed. < > time with dyskinesias was reduced (86 %), while severe dyskinesias disappeared. Levodopa dosage was also lowered (44 %). Patients and caregivers showed a clear-cut benefit on quality of life (58 % and 61 % respectively). No cognitive deterioration was observed and morbidity was in the same range as that published by other teams. CONCLUSION: Bilateral STN-DBS is an effective symptomatic therapy for complicated Parkinsońs disease patients. It improves the quality of life of patients and their caregivers and allows a reduction of levodopa dosage.

Aged↗

PubMed2001

[Unilateral optic neuropathy associated to a dural arterio-venous fistula].

We report the case of a 43-year-old female patient that had a subacute loss of visual acuity on her left eye, initially lacking any additional symptom or sign of intracranial hypertension. She was diagnosed and studied as an optic neuropathy. The cranial MR was normal and it did not show changes on the signal of the optic nerve. The patient did not improve with steroidal treatment. She was re-admitted three months later due to cephalalgia without any modification of the visual symptomatology. On this occasion a high intracranial pressure (400 mmH20) was recorder on lumbar tap. A thrombosis of the right transverse sinus with an associated complex dural arterio-venous fistula, was visualized at the Angio-MRI and cerebral arteriography. We suggest a relationship between optical neuropathy and dural arterio-venous fistula. We also discuss the attitude with regard to patients suffering from optic neuropathies and endocranial hypertension of uncertain origin.

Arteriovenous Fistula↗

PubMed1995

[Posterior cortical atrophy with progressive visual agnosia].

Interest in progressive focal cerebral syndromes associated with classical degenerative diseases has increased in recent years. Descriptions of posterior cortical atrophy with progressive visual agnosia are relatively rare. We present 5 patients (2 women) ranging in age between 57 and 72 years old. In all cases symptoms began and progressed with no known etiology. All cases were sporadic. The main clinical signs are difficulty in recognizing objects, colors, persons or places; topographical disorientation and visual memory alterations; alexia, simultagnosia, loss of ocular fixing and optic ataxia. Some patients presented other disturbances of praxis or memory and 2 progressed to global dementia. Language function was preserved and behavioral disturbances did not develop. The amplitude of the P100 visual evoked potential was low but latency was normal in 4 patients and prolonged in 1. Brain images showed atrophy and hypoperfusion in the parieto-occipital area. The neuropathology status of these patients is unknown.

Adult↗