Spine

Front 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

Back 1

Batson plexus

Front 2

Region most affected by vertebral bacterial osteomyelitis

Back 2

Lumbar spine

Front 3

Area of the spinal cord affected by HTLV-1

Back 3

Posterolateral cord

Front 4

Most common location of spinal DAVFs

Back 4

low thoracic cord or conus medullaris

Front 5

True spinal intramedullary AVMs are located where?

Back 5

dorsal surface of the lower half of the spinal cord

Front 6

Intradural perimedullary and subpial AVMs are located where?

Back 6

Anterior parts of the cervical enlargement

Front 7

What is Foix Alajouanine Myelopathy?

Back 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)

Front 8

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

Back 8

Klippel-Trenaunay-Weber Syndrome

Front 9

Observed in persons subjected to high underwater pressure then ascend too rapidly.

Back 9

Caisson Disease

Front 10

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

Back 10

Upper thoracic spinal cord

Posterior column

Front 11

Most common type of Hereditary Spastic Paraplegia

Back 11

SPG4: with mutation of gene encoding protein SPASTIN

Front 12

Protein encoded by chromosome involved in SPG-3

Back 12

ATLASTIN

Front 13

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

Back 13

Sjögren-Larsson syndrome

Codes for aldehyde dehydrigenase

Front 14

Pathology of HSP

Back 14

Degeneration of corticospinal, gracile fasiculus, spinocerebellar tract

Front 15

What is CRASH syndrome and which HSG is it seen?

Back 15

Corpus callosum hypoplasia, retardation, adducted thumbs, spinal paraplegia, hydrocephalus)

SPG-1

Front 16

What is MASA syndrome and which HSG is it seen?

Back 16

Mental retardation, aphasia, shuffling gait, adducted thumbs

HSG-1

Front 17

True or false: in Primary Lateral Sclerosis, degenerative changes are also seen in the precentral gyrus and prefrontal gyrus

Back 17

True.

Front 18

Pure lower motor neuron syndrome

Back 18

Progressive Muscular Atrophy

Front 19

Protein implicated in Familial Primary Lateral Sclerosis

Back 19

ALSIN

Front 20

How is SOD 1 mutation harmful?

Back 20

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

Front 21

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

Back 21

Extraocular motor neurons and Onuf's nuclei

High expressiin of Calbindin-D28k or Parvalbumin in these motor neurons

Front 22

Genes implicated in ALS eith FTD

Back 22

Gene: FUS and TARDP5P

Protein: Fused sarcoma

Autosomal Dominant

Front 23

First mutation found in Familial ALS and enzyme involved

Back 23

SOD-1 mutation, Cu-Zn superixide dismutase

Front 24

40% of familial ALS is associated with hexanucleotide expansion in what gene?

Back 24

C9orf72

Front 25

Gene implicated in childhood SMA

Back 25

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

Front 26

Gene implicated in adult onset SMA

Back 26

Survival motor neuron 2 (SMN-2)

Front 27

What is the effect of a higher number of SMN-2 copies in severity of phenotype?

(more severe or less severe?)

Back 27

Less severe phenotype

Front 28

How would SMA commonly present?

Childhood or adult?

Symmetric or asymmetric?

Distal ot proximal?

Back 28

Childhood, symmetric, proximal

With atrophy

Front 29

Pathology of SMA

Back 29

Degeneration of anterior horn cells

Front 30

X-linked disorder with unusual pattern of distal muscular atrophy with prominent bulbar signs

Back 30

Kennedy syndrome

Front 31

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

Back 31

Seen in vitamin B12 deficiency where there is defect in methionine synthesis. Methionine is the precursor of SAM.

SAM acts as a methyl donor for methylation of Myelin Basic Protein

Front 32

Small eosinophilic granular intraneuronal inclusions seen in ALS

Back 32

Bunina bodies

Front 33

Most common initial presentation of ALS

Back 33

Foot drop

Front 34

CK levels in:

SMA I

SMA II

SMA III

Back 34

SMA I: normal

SMA II: normal

SMA III: elevated x 10

Front 35

Motor neuron disease predominantly limited to lower cranial nerves?

What is the involved mutation?

Back 35

Fazio- Londe disease

Mutation of SLC52A3: riboflavin transporter

Front 36

What is Hirayamas's Disease?

Back 36

Also known as Juvenile monomelic amyotrophy

MND that predominantly affects muscles innervated by C7-T1

Front 37

Genetics: Kennedy's syndrome

Back 37

CAG trinucleotide repeat expansion in the androgen receptor (AR)

Front 38

What other disease has a similar genetic mutation as Kennedy's syndrome?

Back 38

Huntington's Disease