Term
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Definition
| most common cause of dementia in the elderly. cortical atrophy with widening of sulci, hydrocephalus ex vacuo, neuritic (senile) plaque, neurofibrillary tangles, cerebrla amyloid angiopathy, granulovacuolar degeneration, hirano bodies, A-beta peptides, Genes: ApoE, A-beta, gamma-secretase, tau protein, MAPT |
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Term
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Definition
| focal spherical collections of tilted tortuous neuritic processes (dystrophic neurites) around a central amyloid core. More A-beta42 than A-beta40 in diffuse plaques. |
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Term
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Definition
| Bundles of filaments in the cytoplasm, elongated 'flame' shape, backet weave in rounder cells with 'globose' tangles. Silver Bielschowsky stain. paired helical filaments, hyperphosphorylated tau. |
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Term
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Definition
| paired helical filaments found in dystrophic neurites and axons created courses through affected gray matter |
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Term
| Frontotemporal Dementias with Parkinsonism/Tau |
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Definition
| MAPT mutation which codes for tau. Atrophy of frontal and temporal lobes, neuronal loss, gliosis |
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Term
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Definition
| Lobar atrophy: rare early onset of behavioral changes, sporadic, asymmetric, sparing the posterior 2/3 of the superior temporal gyrus. knife-edge appearance, bilateral caudate/putamen atrophy. Pick bodies, 3R tau |
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Term
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Definition
| cytoplasmic, round to oval, filamentous inclusions, weakly basophilic |
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Term
| Progressive Supranuclear Palsy |
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Definition
| truncal rigidity with dysequilibrium and nuchal dystonia, abnormal speech, ocular disturbances, 50/60 yrs. widespread neuronal loss in globus pallidus, 4R tau. MAPT mutations |
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Term
| Corticobasal Degeneration |
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Definition
| asymmetric motor disturbances, sensory cortical dysfunction, cortical atrophy, gliosis, 'ballooned' neurons (neuronal achromasia), Tau immunoreactivity in 'tufted astrocytes', 'coiled bodies' in oligodendrocytes, loss of pigmented neurons in substantia nigra. |
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Term
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Definition
| Non-tau: cofnitive decline, areas of infarction, diffuse white-matter injury |
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Term
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Definition
| diminished facial expression, stooped posture, slowness, festinating gait, rigidity, pill=rolling tremor |
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Term
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Definition
| progressive L-DOPA=responsive signs, pallor of the substantia nigra, gliosis of catecholaminergic neurons, Lewy bodies. Genes: alpha-synuclein, LRRK2parkin, DJ-1, PINK1. autonomic dysfunction |
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Term
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Definition
| dense core surrounded by a pale halo, fine filaments, densely packed in the core but loose at the rim. composed of alpha-synuclein, in basal nucleus of Meynert |
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Term
| Dementia with Lewey Bodies |
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Definition
| PD is associated 10% with dementia correlating to Lewy body count. Lewey neurites |
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Term
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Definition
| presence of glial cytoplasmic inclusions in oligodendrocytes. parkinsonism (MSA-P), cerebellar dysfunction (MSA-C), or autonomic dysfunction (MSA-A). inclusions are alpha-synuclein |
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Term
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Definition
| MSA-A, affects autonomics |
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Term
| striatonigral degeneration |
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Definition
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Term
| olivopontocerebellar atrophy |
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Definition
| MSA-C, atrophy of the cerebellum |
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Term
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Definition
| dominant, progressive movement disorders and dementia, chorea, relentlessly progressivfe, HD gene trinucleotide repeat for huntingtin, atrophy of the caudate nucleus, frontal atrophy, striatal paucity. especially spiney neurons affected. Forgetfulness. |
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Term
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Definition
| Gene mutation types: CAG repeat, non-coding region expansions, other types |
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Term
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Definition
| recessive progressive illness, first decade, reflexes absent. Position sense and vibratory sense impaired. pes cavus and kyphoscoliosis. GAA trinucleotide repeat. protein is frataxin and is decreased in concentration. generalized mitochondrial dysfunction. heart is enlarged. |
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Term
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Definition
| recessive, ataxic-dyskinetic syndrome in early childhood, immunodeficiency. Gene: ATM on 11q22-q23. X-ray induced chromosome abnormalities. cerebellar loss of Purkinje and granule cells. amphicytes. Hypoplastic glands, lymphoid neoplasms. |
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Term
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Definition
| enlarged (2-5 fold) nucleus in many organs. Found if Ataxia-Telengiectasia syndrome. |
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Term
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Definition
| Amyotrophic Lateral Sclerosis, Motor Neuron Disease: loss of motor neurons. Poorly understood, anterior roots of spinal cord are thin, Bunina bodies, asymmetric weakness of the hands, fasciculations. Genes: copper-zinc superoxide dysmutase (SOD1), VAMP- associated protein B, alsin |
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Term
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Definition
| degeneration of thelower brainstem cranial motor nuclei occurs early. deglutition and phonation deteriorate first. Often fatal in 2 years. |
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Term
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Definition
| remnants of autophagic vacuoles, PAS-positive cytoplasmic inclusions. |
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Term
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Definition
| Kennedy Syndrome: X-linked adult-onset disease, distal limb amyotrophy and bulbar signs. androgen insensitivity, gynecomastia, testicular atrophy, oligospermia, gene: VAG/oplyglutamine repeat in the androgen receptor |
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Term
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Definition
| affects mainly the lower motor neurons in children. Selective loss of anterior horn cells. |
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