Lethal arthrogryposis with anterior horn cell disease
Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder characterized by ... "Lethal arthrogryposis with anterior horn cell disease". Hum Pathol. 26 (1): 12-19. doi:10.1016/0046-8177(95)90109-4. PMID ... The size and shape of spinal cord at different levels are normal but anterior horn motoneurons are diminished in number and ...
List of OMIM disorder codes
... with anterior horn cell disease; 611890; GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B ... T cell-negative, B-cell/natural killer-cell positive; 608971; CD3D Severe combined immunodeficiency, T cell-negative, B-cell/ ... T cell-negative, B-cell/natural killer-cell positive; 608971; PTPRC Severe combined immunodeficiency, T-cell negative, B-cell/ ... FLCN Renal cell carcinoma; 144700; DIRC2 Renal cell carcinoma; 144700; HNF1A Renal cell carcinoma; 144700; RNF139 Renal cell ...
Frederick Andermann
Familial agenesis of corpus callosum with anterior horn cell disease. Trans Am Neurol Assoc 1972; 97: 242-244 Andermann E, ...
Hopkins syndrome
... the anterior horn cells subserving the affected muscles are often damaged. The evidence for anterior horn cell involvement ... In one case, a biopsy of an affected muscle "revealed scattered atrophic fibers, indicating lesions in the anterior horn cells ... Arita, J; Nakae, Y; Matsushima, H; Maekawa, K (1995). "Hopkins syndrome: T2-weighted high intensity of anterior horn on spinal ...
Vestibulospinal tract
This is seen in anterior (ventral) horn cells or certain cranial nerve nuclei. Whereas the extrapyramidal system centers around ... the modulation and regulation through indirect control of anterior (ventral) horn cells. The extrapyramidal subcortical nuclei ... and descend in the anterior funiculus of the spinal cord. Fibers run down to the anterior funiculus to the cervical spinal cord ... The vestibular system is able to respond correctly by recording sensory information from hairs cells in the labyrinth of the ...
Hereditary spastic paraplegia
Loss of anterior horn cells of the spinal cord are observed in some cases. Dorsal root ganglia, posterior roots and peripheral ... another nerve cell or a muscle). Significant for this mechanism is the L1CAM gene, a cell surface glycoprotein of the ... and other substances through the cell. Long nerve fibers (axons) are affected because long distances make nerve cells ... The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of ...
Ubiquitin-activating enzyme
The fatal childhood disorder is associated with loss of anterior horn cells and infantile death. Clinical features include ... Cell. 134 (2): 268-78. doi:10.1016/j.cell.2008.05.046. PMID 18662542. This figure is adapted from Scheme 1 of "The Mechanism of ... Cell. 134 (2): 268-78. doi:10.1016/j.cell.2008.05.046. PMID 18662542. Schulman BA, Harper JW (May 2009). "Ubiquitin-like ... In normally functioning cells, the covalent linkage of ubiquitin or ubiquitin-like protein to a target protein changes the ...
Onuf's nucleus
In amyotrophic lateral sclerosis, Onuf's nucleus is preserved but the other anterior horn cell groups atrophy. This discovery ... Onuf's nucleus is a distinct group of neurons located in the ventral part (lamina IX) of the anterior horn of the sacral region ... Onuf's nucleus is a distinct group of neurons located in the ventral part (lamina IX) of the anterior horn of the sacral region ... Both cell types are spared by amyotrophic lateral sclerosis. Onuf's nucleus cells are anatomically linked with the sacral ...
Transneuronal degeneration
The hyperexcitable corticomotoneurons drive anterior horn cells into metabolic deficit, resulting in cell degeneration and ... If this exocitotoxic process occurs rapidly, it results in a more rapid death of anterior horn cells resulting in lower motor ... In addition cortico spinal tract lesions do not cause anterograde transneuronal degeneration of spinal anterior horn cells. ... a long survival period for those affected cells. The degeneration led to cell shrinkage and cell death, and these symptoms were ...
Lethal congenital contracture syndrome
... arthrogryposis and anterior horn cell loss (Lethal arthrogryposis with anterior horn cell disease, LAAHD) was also shown to ... Lethal arthrogryposis with anterior horn cell disease Online Mendelian Inheritance in Man (OMIM): 255310 Norio R (2003). "The ... Neuropathological analysis shows lack of anterior horn motoneurons and severe atrophy of the ventral spinal cord. The skeletal ...
Deer tick virus
A severe loss of anterior horn cells within the spinal cord and meningoencephalitis of the brain were discovered. A ... considerable loss of Purkinje cells was evident in the patient. Alkhurma virus Louping ill Tavakoli NP, Wang H, Dupuis M, Hull ...
Neuron
... examples are pyramidal cells, Purkinje cells, and anterior horn cells Golgi II: neurons whose axonal process projects locally; ... interneurons with unique dendrite ending in a brush-like tuft Granule cells, a type of Golgi II neuron Anterior horn cells, ... researchers have converted connective tissue cells found in skin into heart cells, blood cells, and liver cells. Wang Z, Tang B ... Neurons are special cells which are made up of some structures that are common to all other eukaryotic cells such as the cell ...
X-linked spinal muscular atrophy type 2
One notable sign of SMAX2 is the loss of anterior horn cells in the spinal cord and brain stem. SMAX2 is typically confirmed ... XL-SMA is characterized by severe hypotonia and areflexia with loss of anterior horn cells in the spinal cord (i.e., lower ... Evidence of degeneration and loss of anterior horn cells in the spinal cord and brain stem Normal SMN1 molecular genetic ... Digital contractures at birth that remain throughout the child's life Evidence of degeneration and loss of anterior horn cells ...
Stephanie Bidmead
She was diagnosed with anterior horn cell myelitis and died on 22 September 1974 at the age of 45. 1965: Invasion - Elaine 1972 ...
Andermann syndrome
"Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and ... The anterior commissure is almost always absent, but occasionally hypoplastic. A bundle of Probst can be found running ...
Congenital distal spinal muscular atrophy
The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in ... a true form of spinal muscular atrophy caused by early loss of anterior horn cells". Brain. 135 (Pt 6): 1714-23. doi:10.1093/ ...
West Nile fever
Disconnect of upper motor neuron influences on the anterior horn cells possibly by myelitis or glutamate excitotoxicity have ... which is not expected for a pure anterior horn involvement. ... Anderson RC, Horn KB, Hoang MP, Gottlieb E, Bennin B (November ... West Nile meningitis (WNM) usually involves fever, headache, stiff neck and pleocytosis, an increase of white blood cells in ... Morpholino antisense oligos conjugated to cell penetrating peptides have been shown to partially protect mice from WNV disease ...
Alix Joffroy
Jean-Martin Charcot encouraged him to study neurology, and together they demonstrated atrophy of anterior horn cells in the ...
Myotonia
... anterior horn cell disorders, Isaacs syndrome, and Hoffmann syndrome. Generally, repeated contraction of the muscle can ... Molecular Cell. 10 (1): 45-53. doi:10.1016/s1097-2765(02)00572-5. PMID 12150906. Kwieciński, H; Lehmann-Horn, F; Rüdel, R ( ... The ClC-1 ion channel is responsible for the major part of chloride conductance in the skeletal muscle cell, and lack of ... Molecular Cell. 10 (1): 35-44. doi:10.1016/s1097-2765(02)00563-4. PMID 12150905. Charlet-B, N; Savkur, RS; Singh, G; Philips, ...
Madras motor neuron disease
... and found that the spinal cord had extreme loss of anterior horn cells and demyelination and sclerosis of the ventrolateral ... They also found changes in the color of the myelin of the optic nerves, decreases in Purkinje cells, increase in Bergman glia, ...
Spinal muscular atrophy
... the reduced availability of the SMN protein results in gradual death of motor neuron cells in the anterior horn of spinal cord ... Whilst stem cells never form a part of any recognised therapy for SMA, a number of private companies, usually located in ... In 2013-2014, a small number of SMA1 children in Italy received court-mandated stem cell injections following the Stamina scam ... Carrozzi M, Amaddeo A, Biondi A, Zanus C, Monti F, Alessandro V (November 2012). "Stem cells in severe infantile spinal ...
Finnish heritage disease
There are 36 identified Finnish heritage diseases: Amyloidosis, Finnish type Lethal arthrogryposis with anterior horn cell ...
Nissl body
... cell bodies of anterior horn cells" Histology at anhb.uwa.edu.au Tissues containing Nissl bodies at harvard.edu (Articles with ... Similar to the ergastoplasm of glandular cells, Nissl bodies are the main site of protein synthesis in the neuronal cytoplasm. ... Fawcett, Don W. (1966). The Cell: Its Organelles and Inclusions. W.B. Saunders Company. ISBN 0-7216-3585-7. Peters A, Palay SL ... Masses of rough endoplasmic reticulum also occur in some non-neuronal cells, where they are referred to as ergastoplasm, ...
F wave
Because a different population of anterior horn cells is stimulated with each stimulation, F waves are characterized as ... As the antidromic impulse reaches the cell bodies within the anterior horn of the motor neuron pool by retrograde transmission ... towards the dorsal horn), as well as antidromic activity (along alpha motor neurons towards the ventral horn). Antidromic ... This impulse travels both in orthodromic fashion (towards the muscle fibers) and antidromic fashion (towards the cell body in ...
Vestibular nuclei
Fibers from the lateral vestibular nucleus also pass via the vestibulospinal tract, to anterior horn cells at many levels in ... The latter end by arborizing around the cells of the medial nucleus, which is situated in the area acustica of the rhomboid ... Some of the axons of the cells of the lateral nucleus, and possibly also of the medial nucleus, are continued upward through ... while the remainder ascend in the medial longitudinal fasciculus to arborize around the cells of the nuclei of the oculomotor ...
Post-polio syndrome
Poliovirus attacks specific neurons in the brainstem and the anterior horn cells of the spinal cord, generally resulting in the ... The most widely accepted theory of the mechanism behind the disorder is "neural fatigue". A motor unit is a nerve cell (or ... in which the body's immune system attacks normal cells as if they were foreign substances. Again, compared to neural fatigue, ... neural fatigue theory proposes that the enlargement of the motor neuron fibers places added metabolic stress on the nerve cell ...
Distal hereditary motor neuronopathies
... genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of ...
List of ICD-9 codes 320-389: diseases of the nervous system and sense organs
Cerebellar ataxia in diseases classified elsewhere 334.8 Other 334.9 Unspecified 335 Anterior horn cell disease 335.0 Werdnig- ... ciliary body and anterior chamber 364.7 Adhesions and disruptions of iris and ciliary body 364.8 Other disorders of iris and ...
Betz cell
... where in humans they synapse directly with anterior horn cells, which in turn synapse directly with their target muscles. Betz ... Betz cells (also known as pyramidal cells of Betz) are giant pyramidal cells (neurons) located within the fifth layer of the ... According to one study, Betz cells represent about 10% of the total pyramidal cell population in layer Vb of the human primary ... Stained brain slice images which include the "Betz cell" at the BrainMaps project NIF Search - Betz Cell via the Neuroscience ...
Β-Methylamino-L-alanine
... limb muscle atrophy nonreactive degeneration of anterior horn cells degeneration and partial loss of pyramidal neurons of the ... behavioral dysfunction conduction deficits in the central motor pathway neuropathological changes of motor cortex Betz cells ...