Marwa Elamin

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BACKGROUND Despite considerable interest, the population-based frequency, clinical characteristics and natural history of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not known. METHODOLOGY The authors undertook a prospective population-based study of cognitive function in 160 incident Irish ALS patients and 110 matched controls.(More)
BACKGROUND The prognostic implications of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not established. OBJECTIVES To investigate the survival effect of the comorbid frontotemporal dementia (FTD) and to determine whether, in the absence of dementia, impairment in different cognitive domains affects outcome. METHODS A prospective(More)
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the(More)
BACKGROUND Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts. METHODS Using targeted high-throughput sequencing, we characterised the variation of 10 Mendelian and 23(More)
BACKGROUND The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. METHOD A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according(More)
OBJECTIVE To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. METHODS A prospective, single-center, single-protocol, gray and white matter magnetic resonance case-control imaging study was undertaken with 30 C9orf72-negative patients with ALS, 9 patients with ALS carrying(More)
BACKGROUND Body region of onset and functional disability are key components of disease heterogeneity in amyotrophic lateral sclerosis (ALS). OBJECTIVES To evaluate patterns of grey matter pathology in the motor cortex and correlate focal structural changes with functional disability. METHODS We conducted a single-centre neuroimaging study of a cohort(More)
OBJECTIVES To characterize the nature and extent of basal ganglia involvement in amyotrophic lateral sclerosis (ALS) genotypes in vivo. METHODS Forty-four healthy controls and 39 patients with ALS were included in the study. Thirty patients with ALS had a negative C9orf72 status and 9 patients with ALS carried the C9orf72 hexanucleotide repeat expansion.(More)
ISSN 1748-2968 print/ISSN 1471-180X online © 2011 Informa Healthcare DOI: 10.3109/17482968.2010.545420 to be attributable to chance (Figure 1) and more likely to be due to a direct genetic effect. Mutations in SOD1 are reported to account for up to 20% of FALS, although reported rates of SOD1 in different cohorts vary widely. While it is acknowledged that(More)
Social cognitive neuroscience is the study of the neurobiological systems underlying effective social behaviour. The neural processes supporting effective social interactions in everyday life and the consequences of dysfunction in these processes have been the focus of intense research over the last two decades. It is becoming increasingly apparent that the(More)