Spine

Question 1

Network of valveless veins extends along the vertebral column from the pelvic venous plexus to the intracranial venous sinuses without passing through the lungs

Answer 1

Batson plexus

Question 2

Region most affected by vertebral bacterial osteomyelitis

Answer 2

Lumbar spine

Question 3

Area of the spinal cord affected by HTLV-1

Answer 3

Posterolateral cord

Question 4

Most common location of spinal DAVFs

Answer 4

Low thoracic cord or conus medullaris

Question 5

True spinal intramedullary AVMs are located where?

Answer 5

dorsal surface of the lower half of the spinal cord

Question 6

Intradural perimedullary and subpial AVMs are located where?

Answer 6

Anterior parts of the cervical enlargement

Question 7

What is Foix ALajouanine Myelopathy?

Answer 7

Amyotrophic paraplegia from severe necrosis of both gray and white matter of the LS region and a marked increase in the number of small vessels with thickened , cellular and fibrotic walls (angiodysplastic)

Question 8

Extensive vascular malformation of the spinal cord with associated cutaneous vascular nevus overlying the AVM/ presence of hemangiectatic hypertrophy of finger or hand

Answer 8

Klippel- Trenaunay- Weber- Syndrome

Question 9

Observed in patients subjected to high underwater pressure then ascend too rapidly

Answer 9

Caissons disease

Question 10

Caisson disease affects mainly which segment and area of the spinal cord

Answer 10

upper thoracic SC, posterior column

Question 11

Most common type of Hereditary Spastic Paraplegia

Answer 11

SPG4: with mutation of gene encoding for protein SPASTIN

Question 12

Protein encoded by SPG-3

Answer 12

ATLASTIN

Question 13

HSP with developmental delay or dementia associated with mutation of ALDH3A2? What protein is coded?

Answer 13

Sjogren- Larsson Syndrome

codes for aldehyde dehydrogenase

Question 14

pathology of SPG

Answer 14

degeneration of corticospinal, gracile fascicles, spinocerebellar tract

Question 15

What is CRASH syndrome and which SPG type is it seen?

Answer 15

Corpus callosum hypoplasia, retardation, adducted thumbs, spinal paraplegia, hydrocephalus
seen in SPG-1

Question 16

What is MASA syndrome and which SPG type is it seen?

Answer 16

Mental retardation, aphasia, shuffling gait, adducted thumbs

seen in SPG-1

Question 17

True or false: in primary lateral sclerosis, degenerative changes are also seen in percentile gyrus and prefrontal gyrus

Answer 17

True.

Question 18

Pure lower motor neuron syndrome

Answer 18

Progressive Muscular Atrophy

Question 19

Protein implicated in Familial Primary Sclerosis

Answer 19

ALSIN

Question 20

Who si SOD 1 mutation harmful?

Answer 20

It causes a toxic gain of function, enhancing free radical formation

Question 21

Which motor neuron are relatively resistant to degeneration in ALS? Explain.

Answer 21

Extraocular motor neurons and Onuf’s nuclei

High expression of Calbindin-D28k or Parvalbumin in there motor neurons

Question 22

Genes implicated in ALS with FTD

Answer 22

genes: c9orf72
FUS and TARDP5P

protein:fused sarcoma

Question 23

First mutation found in Familial ALS and enzyme involved

Answer 23

SOD-1 mutation, Cu-Zn superoxide dismutase

Question 24

Gene implicated in childhood SMA

Answer 24

Survival motor neuron 1 (SMN-1) responsible for 95-98% of childhood SMA

Question 25

Gene implicated in adult SMA

Answer 25

Survival motor neuron 2 (SMN-2)

Question 26

What is the effect of a higher number of SMN-2 copies in severity of phenotype? (more or less severe?)

Answer 26

less severe phenotype

Question 27

How would SMA commonly present?
childhood or adult?
symmetric or asymmetric?
distal or proximal?

Answer 27

Childhood, symmetric, proximal

with atrophy

Question 28

Pathology of SMA

Answer 28

degeneration of anterior horn cells

Question 29

X linked disorder with unusual pattern of distal muscular atrophy with prominent bulbar signs.
Also with unusual mild sensory neuronopathy due to degeneration of dorsal root ganglion

Answer 29

Kennedy syndrome

Question 30

Which vitamin deficiency is S-adenosyl-L-methionine (SAM) affected and why is it important?

Answer 30

Seen in vitamin B12 deficiency where there is a defect in methionine synthesis. Methionine is the precursor of SAM.
SAM acts as a methyl donor for methylation of Myelin Basic Protein

Question 31

Small eosinophilic granular intraneuronal inclusions seen in ALS

Answer 31

Bunina bodies

Question 32

Most common initial presentation of ALS

Answer 32

foot drop

Question 33

CK levels in:
SMA I
SMA II
SMA III

Answer 33

SMA I: normal
SMA II: normal
SMA III: elevated x 10

Question 34

Motor neurone disease predominantly limited to lower cranial nerves?
What is involved mutation?

Answer 34

Fazio- Londe disease

Mutation of SLC52A3: riboflavin transporter

Question 35

What is Hihrayama’s Disease?

Answer 35

Also knwon as Juvenile Monomelic Amyotrophy

MND that predominantly affects muscles innervated by C7-T1

Question 36

Genetics: Kennedy Syndrome

Answer 36

CAG trinucleotide repeat expansion in the androgen receptor (AR)

Question 37

What other disease has a similar genetic mutation as Kennedy Syndrome?

Answer 37

Huntington Disease

Question 38

More than half of acute spinal epidural abscesses is due to what organism?

Answer 38

Staphylococcus aureus

Question 39

Pathology of HIV myelopathy

Answer 39

Microvacuolations, spongiform

Question 40

Areas of preference of these viruses?
Coxsackie?
Herpes zoster?
West Nile?

Answer 40

Coxsackie: anterior horn and motor nuclei of brainstem
Herpes zoster: dorsal ganglion
West Nile: anterior horn

Question 41

In syphilis: difference of tabes dorsalis vs syphilitic SC meningoencephalitis?

Answer 41

Tabes dorsalis: posterior column affected

Syphilitic SC meningoencephalitis: lateral columns affected

Question 42

What is Elsberg syndrome?

Answer 42

Acute lumbosacral radiculitis with urinary retention in HSV-2 and CMV