Search results for "degenerative"
showing 10 items of 334 documents
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
2004
Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrial-specific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying t…
Brain atrophy evolution and lesion load accrual in multiple sclerosis: a 2-year follow-up study
2009
Background To investigate in a large cohort of patients with multiple sclerosis (MS), lesion load and atrophy evolution, and the relationship between clinical and magnetic resonance imaging (MRI) correlates of disease progression. Methods Two hundred and sixty-seven patients with MS were studied at baseline and two years later using the same MRI protocol. Abnormal white matter fraction, normal appearing white matter fraction, global white matter fraction, gray matter fraction and whole brain fraction, T2-hyperintense, and T1-hypointense lesions were measured at both time points. Results The majority of patients were clinically stable, whereas MRI-derived brain tissue fractions were signifi…
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
1997
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…
Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization secondary to pathologic myopia: long-term study.
2006
Purpose: To assess the safety and effectiveness of photodynamic therapy (PDT) with verteporfin for subfoveal choroidal neovascularization (CNV) secondary to pathologic myopia (PM). Methods: Sixty-two patients (62 eyes) with PM underwent PDT according to the guidelines of the Verteporfin in Photodynamic Therapy Study. Clinical evaluations performed at all study visits included measurement of best-corrected Snellen visual acuity, slit-lamp biomicroscopy, and fundus fluorescein angiography. Patients were followed up at 1 month and 3 months after treatment and thereafter at 3-month intervals. Results: The final visual acuity of the study patients, after a median follow-up of 31 months, improved…
Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD.
2001
In 1998, an IL93Met mutation in the ubiquitin carboxy-terminal hydrolase L1 ( UCH-L1 ) gene was identified in a German family affected by PD.1 Recently, others2-4⇓⇓ found that the S18Y polymorphism in exon 3 of UCH-L1 is associated with a low risk of PD. To verify these interesting results, we decided to design a case-control study on the S18Y polymorphism of the UCH-L1 gene using sporadic PD cases. In the meantime, as we were analyzing our samples, a case-control study5 on 142 patients with PD and 142 age- and sex-matched control subjects did not confirm the protective effect found by Maraganore et al.2 In view of these conflicting findings, we reasoned that our contribution may have some …
Benefits of nonlinear analysis indices of walking stride interval in the evaluation of neurodegenerative diseases.
2021
Indices characterising the long-range temporal structure of walking stride interval (SI) variability such as Hurst exponent (H) and fractal dimension (D) may be used in addition to indices measuring the amount of variability like the coefficient of variation (CV). We assess the added value of the former indices in a clinical neurological context. Our aim is to demonstrate that they provide a clinical significance in aging and in frequent neurodegenerative diseases such as Parkinson's disease, Huntington, and amyotrophic lateral sclerosis. Indices assessing the temporal structure of variability are mainly dependent on SI time series length and algorithms used, making quantitative comparisons…
Intravenous immunoglobulin in primary and secondary chronic progressive multiple sclerosis: a randomized placebo controlled multicentre study
2007
In patients with relapsing-remitting multiple sclerosis (MS), IVIG was shown to reduce the relapse rate and progression of disability. In patients with chronic progressive MS, a beneficial effect of IVIG was not documented in placebo controlled studies. This trial investigated the influence of IVIG in primary (PPMS) and secondary (SPMS) chronic progressive MS. Two-hundred and thirty-one patients stratified for PPMS ( n = 34) and SPMS ( n = 197) were randomly assigned to IVIG 0.4 g/kg per month or to placebo for 24 months. Primary endpoints were 1) the time to sustained progression of disease identified as worsening of the expanded disability status scale (EDSS) sustained for 3 months, and …
Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease.
2008
Myocardial (123)Metaiodobenzylguanidine (MIBG) enables the assessment of postganglionic sympathetic cardiac innervation. MIBG uptake is decreased in nearly all patients with Parkinson's disease (PD). Our objective was to evaluate MIBG uptake in patients with genetic PD. We investigated MIBG uptake in 14 patients with PD associated with mutations in different genes (Parkin, DJ-1, PINK], and leucine-rich repeat kinase 2 -LRRK2), in 15 patients with idiopathic PD, and 10 control subjects. The myocardial MIGB uptake was preserved in 3 of the 4 Parkin-associated Parkinsonisms, in I of the 2 patients with DJ-1 mutations, in 1 of the 2 brothers with PINK] mutations, in 3 of the 6 unrelated patient…
MRS SHOWS ABNORMALITIES BEFORE SYMPTOMS IN FAMILIAL ALZHEIMER DISEASE
2006
Background: Pathologic change in Alzheimer disease (AD) begins some years before symptoms. MRS has the potential to detect metabolic abnormalities reflecting this early pathologic change. Presenilin 1 (PS1) and amyloid precursor protein (APP) mutation carriers have a nearly 100% risk of developing AD and may be studied prior to symptom onset. Methods: Short echo time proton MR spectra were acquired from a midline posterior cingulate voxel in presymptomatic carriers of PS1 or APP mutations (“presymptomatic mutation carriers” [PMCs]; n = 7) and age- and sex-matched control subjects (n = 6). Ratios of N-acetyl aspartate (NAA), myo-inositol (MI), and choline-containing compounds (Cho) to creati…
Assessment of Construct Validity of the Oswestry Disability Index and the Scoliosis Research Society–30 Questionnaire (SRS-30) in Patients With Degen…
2019
Observational cohort study.To measure and compare the structural validity of the Oswestry Disability Index (ODI) and the Scoliosis Research Society-30 (SRS-30) questionnaire in an adult population with prolonged degenerative thoracolumbar disease.The ODI and the SRS-30 are commonly used patient-reported outcome instruments to assess back-specific disability and symptoms related to scoliosis. Still, these instruments have not been validated for degenerative spinal disease with different stages of deformity.Altogether, 637 consecutive adult patients with degenerative spinal pathologies were included. The patients completed the ODI (version 2.0), the 23 preoperative items of the SRS-30, a gene…