Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

(2013) Ban-yu Saitoh et al.   Multiple Sclerosis Journal

A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases

(2013) T. Kimura et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetic Analysis of Inherited Leukodystrophies

(2013) Rita Guerreiro et al.   JAMA Neurology

CSF1Rmutations identified in three families with autosomal dominantly inherited leukoencephalopathy

(2012) Jun Mitsui et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation

(2012) Kirk Kleinfeld et al.   JOURNAL OF NEUROLOGY

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report

(2012) Michiaki Kinoshita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

(2011) Christina Sundal et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Adult-onset leukodystrophy with axonal spheroids

(2010) Amélia Mendes et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

(2008) Stefanie H. Freeman et al.   BRAIN PATHOLOGY

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS

(2008) B. M. Keegan et al.   NEUROLOGY