Oliver W J Quarrell

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We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that affected individuals had brains less than 10% of expected size (≤10 standard deviation) and that in addition to a massive reduction in neuron production they displayed partially deficient cortical(More)
BACKGROUND Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family. OBJECTIVE To comprehensively characterize the clinical and genetic abnormalities of MLIV. METHODS Twenty-eight patients with MLIV, aged 2 to 25 years,(More)
The combined caudate head and anterior putamen of six patients with Huntington's disease (HD) was studied by quantitative magnetic resonance spectroscopy (MRS) and the spectra compared with those from a group of six age-matched normal subjects. The concentrations of the three major metabolites, choline, creatine and N-acetylaspartate (NAA), were quantified(More)
OBJECTIVE Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutropenia, organic aciduria and variable(More)
Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of some genomic regions. We propose normative inversion of face shape, opposing difference from a matched norm, as(More)
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative(More)
This is a qualitative examination of candidates' decision-making in relation to the genetic test for Huntington's disease. Semi-structured interviews were conducted with nine participants who were asked about factors influencing their decision whether to take up predictive genetic testing. Transcripts of interviews were subjected to interpretative(More)
Populations practising customary consanguineous marriage have a higher incidence of autosomal recessive genetic disorders than those in which reproductive partners are usually unrelated. In the absence of any national-level response, English service developments to address the additional needs of families living with or at risk of such disorders have been(More)
  • Squitieri F Orobello, S Cannella, Martino T, Romanelli P Giovacchini, Frati L, Mansi L Ciarmiello +46 others
  • 2009
A. Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins. A. Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers of brain atrophy in Huntington's disease. a new(More)