neurodegenerative dz

Question 1

How are neurodegenerative disorders classifed

Answer 1

By their clinical presentation

Question 2

Clinical presentation of Alzheimers

Answer 2

early memory and visuospatial problems, Ach deficit, amyloid plaques and neurofibrillary tangles

Question 3

Clinical presentation of frontotemporal dementia

Answer 3

early behavioral, executive, and language problems

Question 4

Clinical presentation of Parkinsons disease

Answer 4

tremor, rigidity, and bradykinesia. Dopamine deficit, lewy bodies with synuclein protein

Question 5

Clinical presentation of Lewy body dementia

Answer 5

early Parkinsonian features, psychosis, fluctuating consciousness. Dopamine and acetylcholine deficit. Lewy bodies with synuclein protein

Question 6

Clinical presentation of Progressive supranuclear palsy

Answer 6

bradykinesia, rigidity, falls, abnormal vertical eye movements

Question 7

Clinical presentation of amyotrophic lateral sclerosis

Answer 7

weakness and atrophy, fasciculations, and the combination of both upper and lower motor neuron signs

Question 8

Clinical presentation of Huntingtons

Answer 8

dementia, depression, and chorea. AD, increased polyglutamine repeats in huntington gene on chromosome 4. Caudate atrophy

Question 9

Clinical presentation of Creutzfeldt-Jacob dz

Answer 9

rapidly progressive dementia with myoclonus (involuntary jerking) (a prion disease)

Question 10

What is a prion

Answer 10

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

Question 11

How are prion diseases spread

Answer 11

Can occur sporadically, heritable or as transmissible disease.

Question 12

Typical age onset of creutzfeldt-jacob dz

Answer 12

55-65 years is average

Question 13

What is Kuru, where was it described

Answer 13

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

Question 14

Gerstmann-Straussler-Scheinker dz

Answer 14

familial prion disease typically presenting with cerebellar signs including clumsiness, incoordination, and ataxia (lack of muscle control)

Question 15

Fatal familial insomnia

Answer 15

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.

Question 16

What are neurodegenerative diseases

Answer 16

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

Question 17

Neurodegenerative dz with dementia

Answer 17

Alzheimers, frontotemporal dementia, CJD, also possible in Parkinsons, lewy body dementia and Huntingtons

Question 18

Dz with abnormal tau metabolism

Answer 18

frontal temporal dementia and progressive supranuclear palsy. It is also seen in Alzheimer’s in combination with amyloid deposition

Question 19

Dz with disturbance of synuclein

Answer 19

Parkinsons, lewy body dz

Question 20

Dz with disturbance of uqiquitin

Answer 20

ALS

Question 21

Dz with abnormal polyglutamine

Answer 21

Huntingtons

Question 22

familial vs sporadic neurodegenerative dz

Answer 22

Alzheimer’s, frontotemporal dementia, Lewy body dementia, Parkinson’s, PSP, ALS, CJD all have both familial and sporadic forms

Question 23

Alzheimers pathology

Answer 23

amyloid plaques and neurofibrillary tangles in cortex and hippocampus. Also, diffuse atrophy grossly

Question 24

Frontotemporal dementia pathology

Answer 24

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

Question 25

Huntington’s disease pathology

Answer 25

neurodegeneration (atrophy) in caudate nucleus