Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bunina body is known to occur in cases of sporadic amyotrophic lateral sclerosis (ALS), ALS with dementia (a so-called Mitsuyama type), and Guamanian ALS, and seems to lend a diagnostic priority to the presence of Bunina bodies. Absence of Bunina body in a subset of familial ALS with posterior column and spinocerebellar tract involvement or motor neuron disease with basophilic inclusion also adds credence to the specificity of Bunina body in ALS. However, despite its bright eosinophilia, distinct expression of cystatin C, and conspicuous ultrastructure, the origin of Bunina body is still unknown and remain several unsolved problems. Bunina bodies are usually seen within the cytoplasm or dendrites of degenerated and/or sometimes normal-looking large neurons. However, so far, no Bunina body has been found within the axoplasm. Bunina bodies are mainly distributed in the lower motor neurons. Only a single report described it in the Betz cell. Furthermore, several recent studies have revealed the occurrence in neurons which are so far considered to be exempt from the pathology of ALS, i.e. the oculomotor nucleus, Onufurowicz's nucleus, Clarke's nucleus, reticular formation of the brain stem, and subthalamic nucleus. In addition to the occurrence in neurons other than motor neurons, ultrastructurally similar or identical inclusions are reported in neurons of aged rats, the olfactory bulb of aged human, the spinal cord of a patient without ALS, and gangliocytoma. Bunina body probably represents a facet of the degenerating process of a neuron. A high incidence in ALS, particularly in lower motor neurons, awaits a further study of the pathogenesis of Bunina body.
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PMID:[Neuropathology of the motor neuron disease--Bunina body]. 1037 6

A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene. In addition to the dysplastic gangliocytoma, the patient showed typical transactive response DNA-binding protein with Mr 43 kD (TDP-43) pathology mainly in the cortex and the substantia nigra and numerous p62-positive/TDP-43-negative inclusions in the cerebellar granule cells. His sister carried the same gene defect and showed a similar type of TDP-43/p62 pathology in her brain. Our findings confirm that the clinical and pathologic picture of C9orf72 mutation carriers is more heterogeneous than originally thought and warrants further studies on the possible involvement of phosphatase and tensin homolog gene pathway in the specific cerebellar granule cell pathology associated with C9orf72 expansion.
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PMID:Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. 2408 Jan 72