Michael Hutchinson

..There has only been one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder...

..With time and accumulated lesion load, secondary degeneration of denuded axons results in the phase of secondary progressive MS usually 15-20 years after onset...

..These results indicate that natalizumab is effective in reducing disability progression and relapses in patients with relapsing MS, particularly in patients with highly active disease...

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..Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia...

..52, 0.94. It is concluded that two years of IFNbeta therapy for RRMS reduces accumulation of fixed disability in clinical practice...

..The costs of disease-modifying therapies in this group (>170,000 euro yearly) could be re-directed towards development of neurology services to optimize their management...

..The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation...

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..The aim of this study was to establish the predictive value of red flags and the typicality/atypicality of symptoms at presentation in relation to the final diagnosis of patients referred with suspected MS...

..The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity...

..To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of paraparesis...

..The aims of this study were to determine the reliability, responsiveness and minimally important change score of the Multiple Sclerosis Impact Scale (MSIS)-29 physical using the Expanded Disability Status Scale (EDSS) as an anchor measure...

..Our hypothesis was that abnormal SDTs might be found in unaffected relatives of patients with sporadic AOPTD...

..6/100,000 vs. 120.7/ 100,000). The aim of this paper is to examine whether the MS prevalence difference between the two counties is due to population differences in the genetic predisposition to MS...

..Four other individuals have isolated childhood- or adolescent-onset scoliosis. Adolescent-onset scoliosis may represent part of the dystonia phenotype in this family...

..The presumed mechanism of SDT improvement is a modulation of afferent cortical inputs from muscle spindles. Society...

..A nonsense mutation in exon 3 (289C-->T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family...

..20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61...

..7; 55.1 to 56.4). CONCLUSION: Phenotypic variation in PTD presentation is due to the effect of age at onset modulating the expression of a genetic disorder with a caudal-to-rostral change in the site of onset...

..This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic...

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..Previous studies have included autosomal recessive and sporadic cases in prevalence calculations. This study aimed to determine the prevalence and features of pure ADHSP in the island of Ireland...

..CONCLUSION: The authors describe the clinical features of PTD due to the TOR1A GAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability...

..Higher baseline EDSS and failure of complete relapse suppression were associated with a significantly greater likelihood of accumulation of fixed disability...

..5 SD), abnormal SDTs were found in four of five affected with adult-onset PTD and in 12 of 49 unaffected relatives. Sensory abnormalities may be an endophenotype, possibly expressed later as adult-onset PTD...

..To examine the longitudinal relationship between the patient-rated Multiple Sclerosis Impact Scale (MSIS-29) and the doctor-reported Multiple Sclerosis Functional Composite (MSFC)...

..80, 95% CI 0.66-0.88), R(2) 65%, with moderate inter-test agreement (k =0.52). In contrast, SDT and FST scores were less predictive of PASAT scores. We concluded that neither the FST nor SDT are reliable surrogates for the PASAT...

..To determine the long-term outcome of a cohort of 436 patients with multiple sclerosis (MS) seen in 1985 and long-term predictors of benign MS...

..We found a higher than expected rate of psychosis in the Irish HSP population. Two groups of HSP patients may have increased risk of developing psychosis: those with Kjellin's syndrome and those with SPG4-HSP...

..Another affected sibling also had MRI white matter abnormalities. The MRI findings may reflect an ischemic leukoencephalopathy due to amyloid angiopathy affecting meningocortical vessels...

..The aim of this study was to assess the psychometric properties of the Multiple Sclerosis Impact Scale (MSIS-29) for patients in the community and in a hospital setting...

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..Voxel-based morphometry findings indicate that putaminal enlargement in AOPTD is a primary phenomenon. TDTs may be an effective tool in AOPTD research with particular relevance to genetic studies of the disorder...

..We discuss some of the clinical aspects of vCJD and the significance of these cases in the Irish context...

..There are at least seven genetic loci with varying ages at onset and disability. The SPAST gene at the SPG4 locus on chromosome 2p is the major disease gene for AD-HSP...

..7/100 000. Recorded prevalence rates for the south of Ireland, including County Wexford, have been markedly lower and seemed to suggest the existence of a prevalence gradient within the island...