Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images.

Background: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a disease responsible for cognitive impairment in adult humans. It is caused by mutations in the colony stimulating factor 1 receptor gene (CSF1R) or alanyl-transfer (t) RNA synthetase 2 (AARS2) gene and affects brain white matter. Settlement of stages of the pathological brain lesions (Oyanagi et al.

[An autopsy case report of a patient with frontotemporal dementia with motor neuron disease in totally locked-in state showing hyperosmolar hyperosmotic state].

A 57-year-old man with no family history of amyotrophic lateral sclerosis (ALS) or diabetes was diagnosed with ALS, and placed in long-term care where an artificial respirator with tracheotomy was used. He was fed through a gastric fistula tube. He gradually lost the ability to communicate, and computed tomography revealed advanced atrophy of the frontotemporal lobe.

Pathologic basis of the preferential thinning of thecorpus callosum in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Background: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an early onset dementia characterized by axonal loss in the cerebral white matter with swollen axons (spheroids). It had been reported that the preferential thinning and "focal lesions" of the corpus callosum were observed on T2-weighted MRI in ALSP patients. The present study aimed to reveal the pathologic basis of them in relation to brain lesion staging (I ~ IV: Oyanagi et al.

An Elderly Case of Paraneoplastic Anti-NMDA Receptor Encephalitis Associated with Small-cell Lung Cancer Expressing NR1 Subunits.

A 61-year-old Japanese man presented with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. NR1 antibodies were detected in his cerebrospinal fluid. Chest computed tomography revealed lung tumor.

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.

The brains of 10 Japanese patients with adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) and eight Japanese patients with Nasu-Hakola disease (N-HD) and five age-matched Japanese controls were examined neuropathologically with special reference to lesion staging and dynamic changes of microglial subsets. In both diseases, the pathognomonic neuropathological features included spherically swollen axons (spheroids and globules), axon loss and changes of microglia in the white matter. In ALSP, four lesion stages based on the degree of axon loss were discernible: Stage I, patchy axon loss in the cerebral white matter without atrophy; Stage II, large patchy areas of axon loss with slight atrophy of the cerebral white matter and slight dilatation of the lateral ventricles; Stage III, extensive axon loss in the cerebral white matter and dilatation of the lateral and third ventricles without remarkable axon loss in the brainstem and cerebellum; Stage IV, devastated cerebral white matter with marked dilatation of the ventricles and axon loss in the brainstem and/or cerebellum.

Expression of N-methyl-D-aspartate receptor subunits in the bovine ovum: ova as a potential source of autoantigens causing anti-NMDAR encephalitis.

Autoimmune synaptic encephalitis is characterized by the presence of autoantibodies against synaptic constituent receptors and manifests as neurological and psychiatric disorders. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is such an autoimmune disorder that predominantly affects young women. It is associated with antibodies against the extracellular region of the NR1 subunit of postsynaptic NMDAR.

Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study.

Objective: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is an adult-onset white matter disease that presents clinically with cognitive, mental and motor dysfunction. Several autopsy reports have indicated that the corpus callosum (CC), the largest bundle of white matter, is severely affected in patients with HDLS. The aim of this study was to evaluate corpus callosum atrophy (CCA) quantitatively in HDLS patients.

Identification of the N-Methyl-D-aspartate receptor (NMDAR)-related epitope, NR2B, in the normal human ovary: implication for the pathogenesis of anti-NMDAR encephalitis.

N-methyl-D-aspartate receptors (NMDARs) are one type of ionotropic glutamate receptors (GluRs) and are heterotetrametric cation channels composed of NMDAR1 (NR1), NMDAR2 (NR2A, 2B, 2C or 2D) and NMDAR3 (NR3A or NR3B) subunits. The main subunits are NR1 and NR2 and their combinations are classified into several diverse forms including NR1/NR1/NR2A/NR2A, NR1/NR1/NR2B/NR2B and NR1/NR1/NR2A/NR2B. NMDARs are physiologically related to synapse development and synaptic plasticity in the central nervous system.

Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

We herein report the case of a 41-year-old Japanese man with hereditary diffuse leukoencephalopathy with spheroids (HDLS) who carried the de novo K793T mutation in the colony-stimulating factor 1 receptor gene (CSF1R). He showed a gradual decline of his cognitive and mental functions over the following six months. On brain MRI, a thin corpus callosum with T2- and FLAIR-high signal intensity in the splenium was conspicuous, whereas cerebral deep and periventricular white matter lesions were mild.

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

We report a biopsy-proven and genetically determined case with leukoencephalopathy showing autosomal dominant inheritance and pre-senile dementia. A 51-year old woman gradually developed a decline in cognitive functions with aphasia and epileptic seizures. Four of her family members were diagnosed as having dementia in their forties to sixties.

Calciphylaxis as a Catastrophic Complication in a Patient with POEMS Syndrome.

Calciphylaxis is a vascular calcification-cutaneous necrosis syndrome, usually seen in patients with end-stage renal disease and secondary hyperparathyroidism. We report a 57-year-old polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome patient complicated with extensive skin ulcers due to calciphylaxis. He first noted a painful cutaneous ulcer on his left thigh, and then skin lesions rapidly worsened, resulting in multiple intractable ulcers with gangrene on his legs and trunk in a few months.