Ataxia

Question 1

Types of Ataxia

Answer 1

Acquired
Inherited- AD
Inherited -AR

Question 2

Acquired Ataxia Most Common

Answer 2

Whipple’s Disease
Oculomasticatory myorhythmia

Question 3

Autoimmune causes

Answer 3

Antigliadin- anti TTG
SREAT- anti TPO
Stiff person- anti GAD65
Viral Cerebellitis

Question 4

AD Ataxia

Answer 4

SCA
DRPLA
Episodic

Question 5

SREAT

Answer 5

Steroid responsive encephalopathy associated with autoimmune thyroiditis- Hashimoto’s
ANTI TPO

Question 6

SCA repeats

Answer 6

CAG

Question 7

SCA 8

Answer 7

CTG

Question 8

SCA 10
31,36

Answer 8

Pentanucleotide ATTCT

Question 9

Harding classification

Answer 9

Type I- no cerebellar signs
Type II- With visual loss
Type III- Pure cerebellar

Question 10

Pure Cerebellar SCA

Answer 10

SCA 5,6,11

Question 11

SCA 1

Answer 11

Pyramidal

Question 12

SCA 2

Answer 12

Slow saccade- oil in bath appearance

Question 13

SCA 3

Answer 13

Machado Joseph

Question 14

SCA 4

Answer 14

Sensory loss

Question 15

SCA 5

Answer 15

Lincoln

Question 16

SCA 7

Answer 16

Retinitis Pigmentosa

Question 17

SCA 20

Answer 17

Palatal Tremors

Question 18

Machado Joseph

Answer 18

1- Facial myokimia, eye signs
2- Cerebellar signs
3- Peripheral nerve

Question 19

DRPLA

Answer 19

CAG Atropin 1
HAW RIVER SYNDROME

Question 20

Episodic ataxia

Answer 20

1- Potassium
2- Calcium

Question 21

AR intrinsic repeat mutation

Answer 21

FA

Question 22

DNA repair mechanism

Answer 22

AT

Question 23

M/c Inherited ataxia

Answer 23

FA

Question 24

Gene defect in FA

Answer 24

GAA repeat
Frataxin gene defect on chromosome 9
Fe-S clusters affected

Question 25

Cardiac involvement in FA

Answer 25

HOCM 50%

Question 26

AT

Answer 26

ATM gene
NO X RAY

Question 27

AT Cancer

Answer 27

Basal Cell Carcinoma

Question 28

FXTAS

Answer 28

CGG repeat
FMR1 gene