CNS Disorders

Question 1

Syringomyelia (Location, S/S, Path)

Answer 1

• Cystic degeneration of spinal cord
• Cause: Trauma or Arnold-Chiari malformation
• C8-T1 Anterior white commisure
• S/S: kyphosis (axial muscles) and extremity pain/temp los
• Expanded involvement: lower motor neurons (ventral horn) and sympathetic (because lateral horn; ptosis, miosis, anhidrosis (face))

Question 2

Werndig-Hoffman

Answer 2

Anterior horn degeneration in baby (AR); FLOPPY

Question 3

Amyotrophic Lateral Sclerosis (ALS)

Answer 3

Motor (U + L) neuron degeneration (corticospinal tract)
early sign: hand weakness/atrophy
Familial (less common): Zn-Cu Superoxide Dismutase mutation

Question 4

Freidrich Ataxia

Answer 4

Cerebellum (and spinal cord) degeneration
AR (Ch9 GAA repeat)
S/S: begins in childhood; ataxia, proprioception/vibration loss, LE weakness
Assoc: Hypertrophic CM

Question 5

Leukodystrophies (3)

Answer 5

Metachromatic: arylsulfatase deficiency => myelin accumulation in lysosomes
Krabbe Dz: Macrophage galactocerebroside accumulation
Adreno-: CoA can’t be added to long-chain FA’s=> white matter AND adrenal damage

Question 6

Multiple Sclerosis (General, associations, S/S)

Answer 6

Autoimmune destruction of CNS myelin + oligodendrocytes
Assoc: HLA-DR2 (farther from the equator)
S/S: vision blurry, scanning speech, vertigo, internuclear ophthalmoplegia, hemiparesis or sensation loss, LE weakness, bowel, bladder, sexual dysfx.

Question 7

MS (Path)

Answer 7

Periventricular plaques; IgG (oligoclonal) in CSF

Question 8

Alzheimer (Path + Assoc.)

Answer 8

Cortical atrophy with amyloid plaques and neurofibrillary tangles (intracellular, tau protein)
Association: ApoE4 (with reduced risk in ApoE2)

Question 9

Huntington Disease (S/S, Cause, Path)

Answer 9

S/S: aggression, depression, demention, choreiform
Cause: CAG repeat on Ch4; AD
Path: Caudate atrophy

Question 10

Parkinson Disease (Path + S/S)

Answer 10

Loss of substantia nigra dopaminergic neurons. Lewy bodes (α-synuclein)
S/S: tremor, rigidity, instability, shuffling gait

Question 11

Parkinson Drugs

Answer 11

All act to increase dopamine:
Bromocriptine (agonist)
Amantadine (uptake inhibitor)
Levodopa (prevents peripheral L-DOPA degredation)
Selegiline (MAO-B inhibitor (usually breaks down dopamine))
Benzotropine (antimuscarinic)