Week 5: Lecture/TBL

Question 1

Parkinson’s effects what part of the brain?

Answer 1

Substantia Nigra

Question 2

Specifically in which part of the substantia nigra does the loss of dopaminergic neurons occur?

Answer 2

Pars Compacta

Question 3

What specific histology feature is found in Parkinson’s?

Answer 3

Lewy Body

Question 4

The inclusion of the Lewy body contains what?

Answer 4

alpha-synuclein

Question 5

Describe a typical presentation of Parkinson’s.

Answer 5

Male, 60s

Question 6

What are typical symptoms/findings of a patient with Parkinson’s.

Answer 6

resting tremor, bradykinesia, movements get getter with exercise, shuffling gait, stooped posture, cogwheel rigidity

Question 7

Define bradykinesia

Answer 7

difficult to initiate movements; frozen

Question 8

What is the genetic pattern of Hunington’s?

Answer 8

Autosomal dominant

Question 9

Which part of the brain does Hunington’s affect?

Answer 9

Degeneration of the Striatum (caudate + putamen); loss of GABA neurons (also Ach)

Question 10

What is the mechanism of Hunington’s?

Answer 10

neuronal death from glutamate toxicity (glutamate bind to NMDA receptor causing excessive influx of Ca)

Question 11

What does the imaging look like in Hunington’s?

Answer 11

large lateral ventricles due to marked caudate degeneration; atrophy of frontal and temporal lobes

Question 12

What is the genetic mutation in Hunington’s?

Answer 12

HTT gene; CAG repeated sequences

Question 13

What does ‘anticipation’ mean in regards to Hunington’s?

Answer 13

symptoms start earlier and earlier for each generation

Question 14

What are the typical characteristics of a Hunington’s patient?

Answer 14

30s-40s; death after 10-20 years

Question 15

Symptoms of Hunington’s?

Answer 15

dementia, chorea, aggression, depression

Question 16

How do patients with an essential tremor self medicate?

Answer 16

Alcohol use

Question 17

Define chorea.

Answer 17

A type of involuntary movement characteristic of a group of neurological disorders called dyskinesias. Chorea movements are continuous, involuntary, rapid, abrupt, irregular, nonstereotyped, and are not urge- or compulsion-driven. Most commonly involve the shoulders, hips, and face.

Question 18

Name the 5 trinucleotide repeat disorders

Answer 18

Huntington’s, Fragile X, Myotonic dystrophy, Spinocerebellar ataxia, Fredrich ataxia

Question 19

Inheritance pattern of Friedreich ataxia

Answer 19

autosomal recessive

Question 20

Define ataxia

Answer 20

lack of coordination of voluntary movements

Question 21

Name the triplet sequence repeated in Friedreich ataxia

Answer 21

GAA triplet expansion in the 1st intron of FRDA gene on chromosome 9

Question 22

What does the FRDA gene in Friedreich ataxia effect?

Answer 22

dorsal root ganglion, posterior columns, corticospinal tracts, heart

Question 23

Name physical findings in Friedreich ataxia

Answer 23

progressive gait, limb ataxia, absent lower limb reflexes, dysarthria, extensor plantar responses, absent proprioception and vibration

Question 24

Name the triplet sequence in Fragile X syndrome

Answer 24

CGG in the FMR1 gene

Question 25

Physical exam findings in Fragile X syndrome

Answer 25

macroorchidism (large testicles), seizures, short stature in males, connective tissue abnormalities

Question 26

Physical exam findings in Spinocerebellar ataxia

Answer 26

gait ataxia, incoordination, nystagmus, dysarthria

Question 27

Inheritance pattern for spinocerebellar ataxia

Answer 27

autosomal dominant pattern; transmitted paternally

Question 28

Name affected gene in myotonic dystrophy

Answer 28

DM gene

Question 29

Inheritance pattern in myotonic dystrophy

Answer 29

X-linked dominant

Question 30

Which population has a high incidence of mytonic dystrophy

Answer 30

Finnish population: 1: 1100

Question 31

What is the triplet expansion of myotonic dystrophy?

Answer 31

CTG expansion

Question 32

Physical exam findings for myotonic dystrophy

Answer 32

Infants: reduced fetal movement, polyhydramnios, ventriculomegaly Child: cognitive & behavioral features Adult: 20-40s; myotonia, muscle wasting, weakness