Cerebellar Disorders/Ataxia (Thomsen)

Question 1

Inability to perform Romberg test with eyes open indicates what kind of dysfunction?

Answer 1

cerebellar

Question 2

Inability to perform Romberg test with eyes closed suggests what kind of dysfunction?

Answer 2

dorsal column (proprioception) or peripheral nerve

Sensory ataxia!

Question 3

impaired sense of head movement, gait and balance difficulty, but preserved coordination of limbs and speech suggest what kind of ataxia?

Answer 3

vestibular

Question 4

type of cerebellar ataxia resulting in impaired equilibrium, difficulty with eye movements, and + Romberg test with eyes open

Answer 4

vestibulocerebellum (flocculonodular lobe) ataxia

Question 5

type of cerebellar ataxia resulting in drunken sailor gait

Answer 5

spinocerebellum ataxia (vermis/midline structures)

Question 6

type of cerebellar ataxia resulting in disruption of fine motor movements of limbs and dysarhtria

Answer 6

cerebrocerebellum (lateral hemisphere) ataxia

Question 7

All of the following are genetic or degenerative causes of ataxia EXCEPT:

A. Friedrich’s ataxia

B. Multiple system atrophy

C. Spinocerebellar ataxia

D. Paraneoplastic ataxia

Answer 7

D.

• Friedrich’s and spinocerebellar ataxia are both triplet repeat diseases.
• Pareneoplastic ataxias is a systemic cause of ataxia, along with toxins, medications and autoimmune ataxias.
• Structural causes of ataxia include stroke and tumor.

Question 8

Which of these is not part of the standard diagnostic workup for ataxia?

A. Past medical, social, and family history

B. Lab testing

C. Genetic testing

D. Physical exam findings

E. Imaging

Answer 8

C. Consider genetic testing under limited circumstances, not as part of the general workup.

Question 9

A 10 yo male with onset of progressive difficulty with gait. He presents with scoliosis and weakness. On exam he has loss of proprioception in feet. What is the diagnosis?

Answer 9

Friedrich’s ataxia

• age of onset 8-15 with clumsy gait
• progressive ataxia and weakness
• impaired proprioception

Question 10

Friedrich’s is the most common early-onset hereditary ataxia and is acquired in an autosomal recessive fashion. What gene mutation is it associated with?

Answer 10

FXN, leading to loss of frataxin protein production

Question 11

this disease is due to degeneration of sensory fibers in the PNS and degeneration of spinal cord and spinocerebellar tracts in the CNS

Answer 11

Friedrich’s ataxia

Question 12

56 yo male with onset of ataxia, gradually progressive, frequent falls. Has autonomic dysfunction:

• urinary incontinence
• erectile dysfunction
• orthostasis

Also has slowness and stiffness of movements. What is the diagnosis?

Answer 12

multiple system atrophy

• degeneration of cerebellum, pons, inferior olives
• typical onset is middle age
• may start with pure cerebellar ataxia intially and then later develop
  
  • weakness
  • autonomic dysfunction
  • parkinsonism
  • dementia

Question 13

toxic ataxia causes this syndrome, characterized by transient gait ataxia, dysarthria, nystagmus

Answer 13

drug induced cerebella syndrome

typically reversible unless there is heavy, chronic exposure

Question 14

sensory ataxia (dorsal column degeneration) and cerebellar ataxia (spinocerebellar tract degerneration) both may be caused by deficiency of this vitamin

Answer 14

B12

Question 15

alcoholic ataxia duie to vitamin B1 deficiency

Answer 15

wernicke-korsakoff

• acutely characterized by gait ataxia, oculomotor abnormalities and altered mental status
• chronically, this condition may lead to cerebellar cortical degeneration

Question 16

deficiency of this vitamin may cause spinocereballar degeneration and is of particular concern to gastric bypass patients

Answer 16

vitamin E

Question 17

Which of the following regarding paraneoplastic ataxia is FALSE?
A. Ataxia often precedes diagnosis of underlying malignancy

B. Cure of cancer generally resolves ataxia

C. Anti-Purkinje cell antibodies in this type of ataxia cause loss of Purkinje cells and cerebellar atrophy

D. Ovarian and breast cancer is associated with neoplastic anti-Yo antibodies

E. Small cell lung cancer is associated with neoplastic anti-Hu antibodies

Answer 17

B. Cure of cancer doesn’t tend to improve ataxia.

Question 18

A 71 year old lady with sudden onset of problems including shaking and difficulty coordinating movements on her right side presents. She has an elevated cholesterol, uncontrolled hypertension and DM II. What will imaging likely show?

Answer 18

A right sided, unilateral, peripheral, cerebellar stroke

• right sided because cerebellar signs are ipsilateral
• peripheral because if midline was involved there would be truncal ataxia
• stroke because of sudden onset

Question 19

A 52 year old male present with gradual onset of both truncal and peripheral appendicular ataxia. He has nystagmus and headaches that are worse in the morning. What do these findings suggest?

Answer 19

Tumor

• headache/nausea can occur due to obstructive hydrocephalus/elevated intracranial pressure
• may be primary or metastatic
  
  • common metastases include lung, breast, kidney, melanoma