Nsp Week 3: Ataxias (Bharucha)

Front 1

List 4 causes of sensory ataxia

Back 1

1. Vitamin B12 deficiency
2. Tabes dorsalis
3. Peripheral neuropathy
4. Friedreich's ataxia

Front 2

Which portions of the cerebellum are involved in motor planning and limb control?

Back 2

Hemispheres

Front 3

Which portion of the cerebellum is involved in motor execution, balance and gait, and ocular movements?

Back 3

Vermis

Front 4

What are some clinical features of cerebellar disease?

Back 4

1. Ataxia
2. Dysmetria
3. Dyssynergia
4. Tremor
5. Titubation and increased postural sway
6. Hypotonia
7. Asthenia
8. Dysdiadochokinesia
9. Rebound
10. Impaired check
11. Dysarthria
12. Dysphagia
13. Abnormal EOM
14. Cognitive changes

Front 5

What is dysmetria?
What clinical test can be used to check for dysmetria?

Back 5

Inaccuracy in judgment of distance
Overshoot target-- hypermetria
Undershoot target -- hypometria

Clinical tests:
1. finger-nose-finger
2. Heel-knee-shin

Front 6

What is dyssynergia or asynergia?

Clinically, what signs indicate dyssynergia?

Back 6

Decomposition of movement
(breakdown of multi-joint movements into components)

*Impaired acceleration/deceleration and timing

Front 7

Decomposition of rapidly alternation or fine repetitive movements is known as?

Back 7

Dysdiadochokinesia

Front 8

What is a clinical test that is used for detecting dysdiadochokinesia?

Back 8

Rapid alternating movements of halds (palmar/dorsal surfaces) on thigh or surface

Front 9

What is a clinically important difference between sensory and cerebellar ataxia?

Back 9

Sensory ataxia (damage to dorsal columns) will cause (+) Romberg test. The patient can stand normally with eyes open, but as soon as they close their eyes, they will start swaying and fall.
With cerebellar ataxia, the patient will be just as wobbly with their eyes open as they are with their eyes closed

Front 10

What type of clinical test can identify rebound?

Back 10

Tap on patient's outstretched upper extremity leads to rapid, excessive upward displacement

Front 11

What type of clinical test can be used to identify "impaired check?"

Back 11

Limb flexion with resistance to examiner; with sudden release, patient cannot stop the movement

Front 12

Involuntary rhythmic tremor of head or trunk is called..?

Back 12

Titubation

Front 13

What type of cerebellar lesions result in a postural sway in the anterior-posterior direction?

Back 13

Anterior cerebellar lesions
(chronic alcoholsim or malnutrition)

Front 14

Chronic alcoholism damages which region of the cerebellum?

Back 14

anterior superior vermis

Front 15

Describe the ataxia caused by chronic alcoholism

Back 15

Ataxia affects gait primarily, sometimes legs, but NOT upper limbs
*Absence of dysarthria and nystagmus

Front 16

What is the cause of Wernicke's encephalopathy?
List 3 clinical signs.

Back 16

Acute or subacute thiamine deficiency

1. Ataxia
2. Ophthalmoparesis
3. Mental status changes

Front 17

Wernicke's encephalopthy results in atrophy of which structures?

Back 17

1. Mammillary bodies
2. Thalamus

Front 18

Which infections are common causes of ataxia in children and adults?
Besides these, list 4 other infectious causes of ataxia

Back 18

Children --> varicella
Adults --> mononucleosis (Epstein-Barr)

Other causes:
1. HIV
2. Lyme disease
3. Neurosyphilis
4. Whipple's

Front 19

List some toxins/drugs that can cause ataxia

Back 19

1. Lithium
2. Phenytoin
3. Amiodarone
4. Toluene
5. Chemotherapy (5-FU, cytosine arabinoside)
6. Mercury, thallium, organic lead

Front 20

List 2 of the most common paraneoplastic causes of ataxia

Back 20

(Ab attack cerebellum)

1. Gynaecological, breast cancer --> Anti-Yo (PCA-1)
2. SCLC --> Anti-Hu (ANNA-1)

Front 21

Which acquired disease results in ataxia, and is often confused with Parkinson's disease?

When do cerebellar symptoms typically present?

Back 21

Multiple system atrophy (MSA)

*Symptoms present in 5th or 6th decade of life

Front 22

Which disease results in the characteristic "hot cross bun sign" on MRI?

Back 22

Multiple systems atrophy

Front 23

An MRI (FLAIR) of sporadic CJD will show lesions in which areas of the brain?
What will the histology show?

Back 23

1. Head of caudate nucleus
2. Putamen

*Spongiform encephalopahy, and prion proteins on immunostains

Front 24

A disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid is known as?

Back 24

Superficial siderosis
(iron deposition on surface of brain)

Front 25

What is the most common autosomal dominant ataxia?
Does this present with an early or late disease onset?

Back 25

Spinocerebellar ataxia type 6 (SCA 6)
(CACNA1A)

*Late disease onset

Front 26

List 3 clinical features of SCA 6

Back 26

(Spinocerebellar ataxia type 6)

1. Nystagmus
2. Vertigo
3. Presents with older age

Front 27

List 2 autosomal recessive ataxias

Back 27

1. Ataxia telangiectasia
2. Friedreich's ataxia

Front 28

Which gene is involved in ataxia telangiectasia?
List 4 clinical features of the disease

Back 28

ATM (ataxia telangiectasia mutated)

1. Choreoathetosis
2. Neuropathy
3. Telangiectasia
4. Recurrent infections

Front 29

Increased alpha-fetoprotein in a patient with ataxia may be suggestive of which inherited disease?

Back 29

Ataxia telangiectasia

Front 30

What is the most common hereditary ataxia in the western world?

Back 30

Friedreich's ataxia
(75% of ataxias <25 yo)

Front 31

Describe the clinical presentation of Friedreich's ataxia

Back 31

1. Onset in adolescence
2. Ataxia
3. Dysarthria
4. Oculomotor problems
5. Sensory loss
6. Areflexia
7. Extensor plantar reflex absent

Front 32

What is the neuropathy associated with Friedreich's ataxia

Back 32

Degeneration of:
1. Spinocerebellar tracts
2. Dorsal columns
3. Pyramidal tracts
4. Dorsal root ganglia

Front 33

Ataxic patients with which inherited disease are at a high risk of malignancy?

Back 33

Ataxia telangiectasia
(most will die from malignancy by age 20 or 30)

Front 34

Ataxic patients with which inherited disease are especially sensitive to radiation?

Back 34

Ataxia telangiectasia
(chromosomal breaks)

Front 35

Ataxic patients with which inherited disease are prone to recurrent sinopulmonary infections?

Back 35

Ataxia telangiectasia
(immunoglobulin and T-cell deficiencies)

Front 36

An ataxic patient presenting with xanothomas on the achille's tendon or patellar tendon most likely has which disease?

Back 36

Cerebrotendinous xanthomatosis

Front 37

List 1 X-linked disease that results in ataxia

Back 37

Fragile X Tremor Ataxia Syndrome (FXTAS)

Front 38

Which trinucleotide repeat expansion is associated with Fragile X Tremor Ataxia syndrome?

Back 38

CGG expansion (55-200)

Front 39

Ubiquitin positive inclusions in neurons and glia are characteristic findings of which disease?

Back 39

Fragile X Tremor Ataxia Syndrome

Front 40

What will an MRI of a patient with FXTAS look like?

Back 40

1. Marked cerebral and cerebellar atrophy
2. White matter lesions

Front 41

List 2 tests that can be done to diagnose mitochondrial disease in ataxic patients?

Back 41

1. Check serum lactate levels (elevated with mitochondrial disorders)
2. Do a muscle biopsy to look for characteristic ragged red fibers

Front 42

Patients who sway and stumble from side to side, but do not fall (unless someone is nearby to catch them), is a sign of what sort of condition?

Back 42

Psychogenic ataxia