neurodegenerative dz Flashcards
How are neurodegenerative disorders classifed
By their clinical presentation
Clinical presentation of Alzheimers
early memory and visuospatial problems, Ach deficit, amyloid plaques and neurofibrillary tangles
Clinical presentation of frontotemporal dementia
early behavioral, executive, and language problems
Clinical presentation of Parkinsons disease
tremor, rigidity, and bradykinesia. Dopamine deficit, lewy bodies with synuclein protein
Clinical presentation of Lewy body dementia
early Parkinsonian features, psychosis, fluctuating consciousness. Dopamine and acetylcholine deficit. Lewy bodies with synuclein protein
Clinical presentation of Progressive supranuclear palsy
bradykinesia, rigidity, falls, abnormal vertical eye movements
Clinical presentation of amyotrophic lateral sclerosis
weakness and atrophy, fasciculations, and the combination of both upper and lower motor neuron signs
Clinical presentation of Huntingtons
dementia, depression, and chorea. AD, increased polyglutamine repeats in huntington gene on chromosome 4. Caudate atrophy
Clinical presentation of Creutzfeldt-Jacob dz
rapidly progressive dementia with myoclonus (involuntary jerking) (a prion disease)
What is a prion
small infectious pathogen that contains protein but lacks nucleic acid. The prion protein is normally expressed in humans with highest levels in CNS. Conformational change in the protein lead to disease
How are prion diseases spread
Can occur sporadically, heritable or as transmissible disease.
Typical age onset of creutzfeldt-jacob dz
55-65 years is average
What is Kuru, where was it described
Kuru was described among the Fore people in Papua New Guinea and transmission of the prion disease was through ritual cannibalism. Early presentation of tremor and incoordination, followed by dementia and finally death
Gerstmann-Straussler-Scheinker dz
familial prion disease typically presenting with cerebellar signs including clumsiness, incoordination, and ataxia (lack of muscle control)
Fatal familial insomnia
prion disease- usually familial, some sporadic cases described. Autosomal dominant, 35-60 yrs at onset,presents with progressive insomnia, hallucinations, memory loss, and a confusion state.
What are neurodegenerative diseases
illnesses characterized by the spontaneous death of neuronal populations, with the location of the neurons determining the clinical presentation. Many have problems with protein conformation and metabolism, thus characterized by abnormal protein accumulations
Neurodegenerative dz with dementia
Alzheimers, frontotemporal dementia, CJD, also possible in Parkinsons, lewy body dementia and Huntingtons
Dz with abnormal tau metabolism
frontal temporal dementia and progressive supranuclear palsy. It is also seen in Alzheimer’s in combination with amyloid deposition
Dz with disturbance of synuclein
Parkinsons, lewy body dz
Dz with disturbance of uqiquitin
ALS
Dz with abnormal polyglutamine
Huntingtons
familial vs sporadic neurodegenerative dz
Alzheimer’s, frontotemporal dementia, Lewy body dementia, Parkinson’s, PSP, ALS, CJD all have both familial and sporadic forms
Alzheimers pathology
amyloid plaques and neurofibrillary tangles in cortex and hippocampus. Also, diffuse atrophy grossly
Frontotemporal dementia pathology
Variety of pathologies manifesting as common phenotype. Can include neurofibrillary tangles, ubiquitin inclusions, tau reactive intraneuronal inclusion, and CDP-43 deposition, or no specific findings at all
Huntington’s disease pathology
neurodegeneration (atrophy) in caudate nucleus
