Search results for "Degenerative disease"
showing 10 items of 250 documents
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…
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…
Cervical Spondylotic Myelopathy: When and Why the Cervical Corpectomy?
2020
Background: Cervical spondylotic myelopathy (CSM) is a degenerative disease that represents the most common spinal cord disorder in adults. The best treatment option has remained controversial. We performed a prospective study to evaluate the clinical, radiographic, and neurophysiologic outcomes for anterior cervical corpectomy in the treatment of CSM. Methods: From January 2011 to January 2017, 60 patients with CSM were prospectively enrolled in the present study. The patients were divided according to the modified Japanese Orthopaedic Association scale (mJOA) score into 2 groups: group A, patients with mild to moderate CSM (mJOA score ≥13); and group B, patients with severe myelopathy (mJ…
Magnetic resonance myelography evaluation of the lumbar spine end plates and intervertebral disks.
2005
Purpose: To evaluate the value of magnetic resonance (MR) myelography in the evaluation of intervertebral disk and end‐plate degenerative changes in the lumbar spine.Material and Methods: Conventional MR and MR myelography examinations were performed in 150 consecutive patients (69 F and 81 M, mean age 45±15 years, range 18–89). Sagittal T1 and T2‐weighted TSE images were compared to MR myelography obtained with a multishot‐TSE‐T2‐weighted sequence (4000/250/fat suppression). Coronal, sagittal, and both oblique MR myelography projections were obtained. Image analysis was carried out independently by two radiologists who categorized lumbar disks into normal, degenerated, or edematous; and ve…
Reprogramming of Pericyte-Derived Cells of the Adult Human Brain into Induced Neuronal Cells
2012
SummaryReprogramming of somatic cells into neurons provides a new approach toward cell-based therapy of neurodegenerative diseases. A major challenge for the translation of neuronal reprogramming into therapy is whether the adult human brain contains cell populations amenable to direct somatic cell conversion. Here we show that cells from the adult human cerebral cortex expressing pericyte hallmarks can be reprogrammed into neuronal cells by retrovirus-mediated coexpression of the transcription factors Sox2 and Mash1. These induced neuronal cells acquire the ability of repetitive action potential firing and serve as synaptic targets for other neurons, indicating their capability of integrat…