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cAS3 > Neurodegenerative disorders > Flashcards

Neurodegenerative disorders Flashcards

1
Q

Disease of Grey mattered characterized by progressive loss of neurons with associated secondary changes in the white matter tract. Presence of protein aggregates that are resistant to degradation through the ubiquitin proteasome system. Histologically seen as INCLUSION

A

Neurodegenerative Disorders

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2
Q

————- and ———— are neurodegenerative disorders of the Cerebral Cortex Neurons

A

Alzhemier and PICK (frontotemporal Lobar Degenerations)

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3
Q

———- and ———- are degenerative disorders of the Basal Ganglia

A

Parkinson and Huntington

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4
Q

——— is a degenerative disorder of the Spinocerebellar

A

Friedreich Ataxia

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5
Q

————— is a neurodegenerative disorder Motor neurons

A

Amyotrophic Lateral Sclerosis (ALS)

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6
Q

What are the Early mutations in Alzheimer disease and which is the most common?

A

APP gene on Chromosome 21 (Down syndrome)
PSEN-1 gene on chromosome 14 (Most common)
PSEN-2 gene on Chromosome 1

Down Syndrome associated from excess doses of APP gene on Chr 21 which results in excess cerebral amyloid production

APP- Amyloid Precursor Protein

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7
Q

Late onset of Alzhemier Disease is caused by?

A

Apo Ę gene on chromosome 19 (Apo E 4) allele

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8
Q

What are the risk factors of Alzheimer disease

A

Age > 70 years
Positive family history (suggests genetic contribution- Autosomal dominance

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9
Q

What is the earliest gross pathological changes in Alzheimer disease and what causes cognitive decline in the disease?

A
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10
Q

3 Microscopic Changes in Alzheimer disease

A
  1. Extracellular neuritic (senile) plaques- Beta Amyloid Protein
  2. intracellular neurofibrillary tangles - Hyperphosphorylated microtubules associated protein - PTAU
  3. cerebral amyloid angiopathy
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11
Q

What enzyme cleaves APP( Amyloid precursor protein) that leads to the production of AB peptides - Extracellular neuritic (senile) plaques

A

Beta Secretase and Y secretaries

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12
Q

Clinical Consequences of —————- disease begins with MEMORY impairment (Hippocampus), progresses to language and Visio spatial deficits, executive dysfunction, organization problems, navigational difficulties, word-finding END stage: rigidity, mute, incontinent, bedridden and needs assistance with eating, dressing and toileting

A

Alzheimer disease

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13
Q

What are the generalized MRI finding in Alzheimer disease

A

Generalized or focal cerebral atrophy- ENLARGED ventricle and prominent cerebral Sulci (Ex Vacoule)

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14
Q

Age onset is 5th to 7th decade, Alteration in personality, Behavior and altered speech pattern precede Memory Loss; Apathy, Disinhibition; socially inappropriate and compulsive behavior

A

frontier-Temporal Dementia -PICK disease

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15
Q

A frontotemporal lobar degeneration (Knife -edge) Cholinergic system is relatively spared compared to Alzheimer disease

A

PICK disease (fronto-temporal lobe) a frontal anterior loss of temporal lobes

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16
Q

Tau or TDP -43 is seen in 90% of patient s of Frontotemporal dementia (PICK) True or False?

A

True

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17
Q

What is the main pathophysiology of PICK disease? Which Protein is mutated?

A

Microtubules associated protein Tau (MAPT) (Chromosome 17) Tau +

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18
Q

Genetic Basis of Frontotemporal dimentia (PICK disease)

A
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19
Q

Differences between PICK Disease and HIV associated Dementia based on pathological features

A

PICK - A round intracellular aggregates of hyperphosphorylated Tau (3R tau)

HIV associated Dementia- Presence of MICROGLIAL nodules- which are clusters of activated immune cells in the brain

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20
Q

———— dementia is seen in Advance HIV pt who have CD4 counts < 200/mm.
Subcritical dementia which includes attention or working memory deficit, executive dysfunction and slow information processing

Histology: cluster of Microglial cells/ macrophages around small foci of necrotic brain tissue

A

HIV associated Dementia

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21
Q

Basal Ganglia structure

A

Caudate nucleus : curved structure surrounding the lateral ventricles in a C shape
Putamen: lateral to caudate nucleus
Globus Pallidus (External and Internal)
Subthalamic Nucleus (STN): situated below the thalmus
Substantial Nigra :

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22
Q

Striatum is made up of ———- and ———- which secretes ____________ and inhibitory transmitter

A

Caudate Nucleus and Putamen; GABA

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23
Q

Images of Basal Ganglia

A
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24
Q

Substantial Nigra secrete ————-

A

Dopamine

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25
Q

Degeneration of dopamine fibres occurs at?

A

Subtantial Nigra Completa

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26
Q

GPRC receptors: ———- acts on Gs and ———- acts in Gi

A

G1 receptor; G2 receptor

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27
Q

Cardinal feature of Parkinson Disease: TRAP

A
28
Q

Second most common age-related neurodegenerative disease; Mean age about 60yrs; Early Onset <40yrs are associated with gene mutation:
Alpha-synuclein
Glycocerebrosidase (GBA)
LRRK2
PINK1/ Parkin

A

Parkinson Disease

29
Q

The pathological Hallmark features of Parkinson Disease

A
30
Q
A

Subthalamic Nucleus - take this away and there will be no excitation on GPi cos Glutamate won’t be able to stimulate GPi to release GABA

31
Q

Parkinson disease - Gross and Microscopic Features (Normal, Reductionnof pigment in SNc in PD, Lewy bodies

A
32
Q

Which protein is deposited in Lewy bodies?

A

Hyperphosphorylated Tau proteins - alpha Synuclein

33
Q

Decriminate Parkinson Disease Dementia (PDD) and Dementia with Lewy Bodies (DLB)

A

In Dementia with Lewy Bodies, Dementia occurs first along with Hullucination

In Parkinson Disease Dementia, Dementia occurs last following loss of movement disorders (first)

34
Q

Lewy bodies are present throughout the brain in 3 stages _______, ————-, and ———— poor response to Levodopa

A

Brain stem predominant
Transitional limbic
Diffuse neocortical

35
Q

Classification of forms of Parkinsonism based on clinocopathological features

A
36
Q

True or false: Wilson disease and Fragile X can cause Parkinson disease?

A

True

37
Q

What is the the toxic metabolite of MPTP (1-methyl-4-phenyl-1,2, 3, 6- Tetrahydropyridine ? How can you treat?

A

MPP+ (1-methyl-4-phenylpyridinium ion . treatment by MAOB inhibitor

38
Q

Transmitters for Locus Coeruleus (Parkinson Disease) and Substantial Innominata

A

-Norepinephrine
-Chlornerginic

39
Q

Two important histological features for Huntington are ————— and ————-

A
  1. Lost of spiny neurons
  2. Reactive Gliosis (proliferation of astrocytes)
40
Q

An autosomal dominant disease with onset 25-45years due to the prominent loss of medium size spiny neurons and Gliosis in the caudate nucleus and putamen (Straitum disorder)

A

Huntington Disease

41
Q

Rapid, nonpatterned, Involuntary Choreiform movements, OCULOMOTOR deficit, behavior abnormalities, progressive dementia, Early stage: Focal or segmental Chorea
Advance stage: Reduction in Chorea and the emergence of Dystonia, rigidity, bradykinesia, and myoclonus

A

Characteristics of Huntington disease

42
Q

—————Disease caused by DECREASE —————-and unbalanced ——————— in the striatum (Caudate nucleus and Putamen) leading to Chorea

A

Huntington disease, GABA, Dopamine

43
Q

What repeat (3X) is found in Huntington gene on Chromosome 4p?

A
44
Q

Gross and microscopic presentation of Huntington Disease

A

FLAIR -MRI shows enlargement of the lateral ventricles reflecting atrophy of the caudate lobe (arrows)

45
Q

An auto recessive disease, a spinocerebellar degenerative disease that manifest in 1st decade of life and wheel chair by 5years, Death from Pulmonary infections or cardiac disease

A

Friedrich Ataxia

46
Q

Pathophysiology of —————— is a trinucleotide repeats (GAA) on the Frataxin gene on Chromosome ————causing mitochondrial iron overload which leads to oxidative damage and degeneration of both CNS and PNS

A

Friedrich Ataxia; Chromosome 9

47
Q

An Autosomal recessive disease that presents with Spastic weakness, staggering gait, frequent fall

A

Friedrich ataxia

48
Q

Associated with HYPERTROPHIC CARDIOMYOPATHY, kyphoscolosis, FOOT ABNORMALITIES, and DIabetes

A

FRIEDRICH ATAXIA

49
Q

Histologic findings: Degeneration if neurons in the spinal cord, brain stem, cerebellum and the Betz cells if the motor cortex is associated with?

A

Friedrich Ataxia

50
Q

Summary of Friedrich Ataxia

A
51
Q

Identify the Disease

A

Friedrich Ataxia

52
Q

An Autosomal Recessive disorder due to Mutated ATM GENE —-> unable to repair double strand DNA breaks—-increase cancer development?

A

Ataxia Telangiectasia

53
Q

Increased risk for Carcinomas gloom as and lymphomas, death by second decade with clinical presentations:
-Ataxia (Cerebellar degeneration)
-Spider angiomas (Telangiectasia) -Skin, conjunctiva and brain
-Decreased immunocompetence (Recurrent Sinopulmonary infections)

A

Ataxia Telangiectasia

54
Q

What disorder is this?

A

Ataxia Telangiectasia

55
Q

Autopsy was done and there was a problem with the Diaphragm… what disease?

A

ALS- Amyotrophic lateral Sclerosis

56
Q

Mean age is 57 years, Autosomal dominant disease and the most common MOTOR Neuron Disease

A

ALS -Amyotrophic lateral Sclerosis

57
Q

Identify this disease

A

ALS

58
Q

What is the classical Triad of ALS?

Hint: ASH

A
59
Q

The most concerning site of LMN degeneration in ALS is ————-

A

Diaphragm

60
Q

What are the pathological features of ALS?

A
61
Q

In a Microscope, THIN VENTRAL ROOTS is associated with —————-disease?

A

ALS

62
Q

Identify this Disease based on the image

A

ALS

63
Q

Alzheimer disease is the leading cause of Dementia (True or False)

A

True

64
Q

————— disease results from Trinucleotide repeats (CAG) in ————-gene

A

Huntington Disease; Huntington gene

65
Q

Disease associated with progressive depletion of dopaminergic neurons—- Lewy bodies (Intracellular eosinophilia inclusion) in Substantial Nigra

A

Parkinson Disease

66
Q

Disease associated with trinuclotide repeats (GAA) on in the frataxin gene

A

Friedreich Ataxia

67
Q

Mutation of gene that encodes protein C9orf72, Cu-Zn Superoxide Dismutase (SOD1)

A

ALS

cAS3 (17 decks)

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