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1.  Pancytopenia related to dental adhesive in a young patient 
American Journal of Stem Cells  2013;2(2):132-136.
Copper deficiency resulting in hypocupremia is a rare cause of pancytopenia associated with a neurological syndrome. Hypocupremia may also occur as a consequence of excessive oral zinc consumption as described by Brewer et al and several other groups. Dental fixatives have been described as a potential source of hyperzincemia in patients. Despite the recently modified dental fixatives with safer zinc content, zinc poisoning results in hypocupremia secondary to inappropriate use of them can still happen and more likely be misdiagnosed. We describe a case of a patient with pancytopenia who was diagnosed with severe aplastic anemia and hypocellular myelodysplastic syndrome and was referred to us for consideration of bone marrow transplantation.
PMCID: PMC3708507  PMID: 23862101
Pancytopenia; dental; adhesive
2.  Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research 
PLoS ONE  2012;7(8):e43099.
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
PMCID: PMC3428297  PMID: 22952635
3.  Pallidonigral TDP-43 pathology in Perry syndrome 
Parkinsonism & related disorders  2008;15(4):281-286.
Autosomal dominant parkinsonism, hypoventilation, depression and severe weight loss (Perry syndrome) is an early-onset rapidly progressive disease. At autopsy, previous studies have found severe neuronal loss in the substantia nigra without Lewy bodies. Transactive response DNA-binding protein of 43 kDa (TDP-43) has recently been identified as a major ubiquitinated constituent of neuronal and glial inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis. This study reports clinical, genetic and neuropathologic investigations of Perry syndrome.
Clinical data and autopsy brain tissue samples were collected from eight patients from four genealogically unrelated kindreds with Perry syndrome. Brain tissue was studied with immunohistochemistry and biochemistry for TDP-43. Patients were screened for mutations in the progranulin (GRN) and TDP-43 (TARDBP) genes.
The mean age at onset was 47 years (range: 40-56), and the mean age at death was 52 years (range: 44-64). In all patients, we identified TDP-43-positive neuronal inclusions, dystrophic neurites and axonal spheroids in a predominantly pallidonigral distribution, and we demonstrated changes in solubility and electrophoretic mobility of TDP-43 in brain tissue. The inclusions were highly pleomorphic and predominated in the extrapyramidal system, sparing the cortex, hippocampus and motor neurons. There were no mutations in GRN or TARDBP.
Perry syndrome displays unique TDP-43 pathology that is selective for the extrapyramidal system and spares the neocortex and motor neurons.
PMCID: PMC2693935  PMID: 18723384
autosomal dominant; axonal dystrophy; neuronal cytoplasmic inclusions; pallidonigral; parkinsonism; Perry syndrome; TARDBP; TDP-43
4.  DCTN1 mutations in Perry syndrome 
Nature genetics  2009;41(2):163-165.
Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions in 8 families that diminish microtubule binding and lead to intracytoplasmic inclusions. DCTN1 mutations were previously associated with motor neuron disease but can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.
PMCID: PMC2813485  PMID: 19136952
Dynactin; DCTN1; Perry syndrome; parkinsonism; neurodegeneration; TDP-43

Results 1-4 (4)