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1.  An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications 
Journal of neurology  2013;260(10):10.1007/s00415-013-7093-x.
doi:10.1007/s00415-013-7093-x
PMCID: PMC3865925  PMID: 24036850
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CSF1R; calcification; computed tomography; white matter; differential diagnosis
2.  A novel de novo pathogenic mutation in CACNA1A gene 
doi:10.1002/mds.25198
PMCID: PMC3477248  PMID: 23038654
episodic ataxia type 2; CACNA1A; p.R1346Stop; acetazolamide; cerebellar vermis
3.  Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis 
Neurology  2013;80(19):1771-1777.
Objective:
We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation.
Methods:
Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination.
Results:
The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia. Immunohistochemistry for TAR DNA-binding protein 43 (TDP-43) revealed variability in morphology and distribution of pathology. One patient had notable involvement of motor neurons in the spinal cord as well as type B TDP-43, whereas 2 other patients had type A TDP-43.
Conclusions:
The clinical presentation of the GRN A9D missense mutation is not restricted to behavioral variant frontotemporal dementia and may include aphasia, extrapyramidal features, and, notably, amyotrophic lateral sclerosis.
doi:10.1212/WNL.0b013e3182919059
PMCID: PMC3719429  PMID: 23596077
4.  Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids 
Nature Genetics  2011;44(2):200-205.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominantly inherited central nervous system white matter disease with variable clinical presentations including personality and behavioral changes, dementia, depression, parkinsonism, seizures, and others1,2. We combined genome-wide linkage analysis with exome sequencing and identified 14 different mutations affecting the tyrosine kinase domain of the colony stimulating factor receptor 1 (encoded by CSF1R) in 14 families affected by HDLS. In one kindred, the de novo occurrence of the mutation was confirmed. Follow-up sequencing analyses identified an additional CSF1R mutation in a patient clinically diagnosed with corticobasal syndrome (CBS). In vitro, CSF-1 stimulation resulted in the rapid autophosphorylation of selected tyrosine-residues in the kinase domain of wild-type but not mutant CSF1R, suggesting that HDLS may result from a partial loss of CSF1R function. Since CSF1R is a critical mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis.
doi:10.1038/ng.1027
PMCID: PMC3267847  PMID: 22197934
5.  Familial idiopathic basal ganglia calcification: a challenging clinical-pathological correlation 
Journal of neurology  2009;256(5):839-842.
doi:10.1007/s00415-009-5025-6
PMCID: PMC2875477  PMID: 19252803
Fahr disease; brain calcinosis; idiopathic basal ganglia calcification

Results 1-5 (5)