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Disease/syndro Inciting incident Structures

me affected
Poliomyelitis Poliovirus infection (fecal- Anterior horn
oral) Replication in cells of the spinal
oropharynx and small cord
intestine --> blood -->
Werdnig- CNS
Autosomal recessive Degeneration of
Hoffman disease inheritance anterior horn

Amyotrophic Sporadic, defect in UMN and LMN,

Lateral Sclerosis Superoxide dismutase 1 no sensory
(ALS) (SOD1 on chr 21), or betel involvement
nut ingestion

Tabes dorsalis Tertiary syphilis Degeneration of

dorsal columns
and dorsal roots

Friedreich's Autosomal recessive GAA Mitochondria.

Ataxia repeat disorder (Frataxin Cerebellum,
gene) Posterior/Lateral
spinal cord,
Brown-Sequard Hemisection of spinal cord DC-ML, STT,
syndrome corticospinal,

Horner's Interruption of pathway Pupils, eyelid

Syndrome from hypothalamus --> smooth muscle,
spinal cord --> superior sweatglands of
cervical ganglion --> eyes. forehead and
Often due to spinal injury face
above T1.
Alzheimer's Sporadic. Familial(10%) - Widespread
Disease Early onset: APP (Chr 21), cortical atrophy,
presinilin-1,2; Late onset: decreased Ach.
APOE4 (Chr 19, APOE2 is

Pick's Disease Frontotemporal

lobes (spares
parietal and 2/3
of superior
temporal gyrus

Creutzfeldt- Corneal transplantation, Cortex (viral

Jakob disease human brain contact, encephalitis due
improperly sterilized to prions)
electrodes, ingestion of
bovine tissues with "mad

Dementia VITAMIN D WEST Vitamin

mnemonic Deficiency (B12,
ar, Intracranial
tumor, Trauma,
Infection (HIV,
syphilis), Normal
Metachromatic Autosomal recessive CNS and PNS,
Leukodystrophy lysozomal storage disease Impaired
(arylsulfatase A production of
deficiency) myelin sheath
due to buildup of
Charcot-Marie- Autosomal Dominant. Peripheral nerves
Tooth Disease Defective production of
(AKA Hereditary proteins involved in the
Motor and structure and function of
Sensory peripheral nerves or the
Neuropathy myelin sheath
Sturge-Weber Congenital - sporadic or skin, adrenals,
Syndrome somatic mosaicism eyes, brain

Tuberous Autosomal Dominant: CNS, skin, heart,

Sclerosis tuberin or hamartin gene. kidneys.

Neurofibromato Autosomal dominant. Skin, eyes,

sis type I (von Mutated NF-1 on kidney
Recklinghausen' Chromosome 17 ('von
s) recklinghausen' has 17

Neurofibromato Autosomal dominant. Chr Nerves, skin

sis Type II 22 ('Neurofibromatosis
Type 2' has 22 letters)

von Hippel- Autosomal Dominant. VHL Skin, mucosa,

Lindau disease Mutation on chromosome brain, kidney,
3 (tumor suppressor) eyes

Dandy-Walker congenital Brain

Symptoms Prognosis Diagnosis/Treatment

Headache, F/N, abd pain, sore Paralysis is temporary, CSF will have lymphocytic
throat, LMN distruction but permanent pleocytosis, slight protein
(fasciculations, flaccid deformity can occur. elevation. Can recover virus
paralysis, hyporeflexia, from stool or throat.
floppy baby, tongue Death around 7 EMG, absent reflexes
fasciculations (LMN only) months, usually due to

UMN and LMN findings, atrophy Eventual paralysis of

of the intrinsic hand muscles, respiratory muscles;
babinski sign. Commonly survival 3-5 yrs.
presents with fasciculations.
40-60 y/o
Impaired proprioception and FTA-ABS (Fluorescent
locomotor ataxia. Charcot's Treponemal Antibody
joints, shooting pain, Argyll Absorption test)
Robertson pupils, absent DTRs,
positive Romberg.
Staggering gait, frequent Death due to Usually presents with
falling, nystagmus, dysarthria, hypertrophic kyphoscoliosis in childhood
pes cavus, hammer toes, cardiomyopathy
hypertrophic cardiomyopathy,

Ipsilateral UMN signs in

corticospinal tract below lesion;
Ipsilateral DC-ML loss below
lesion; Contralateral STT below
lesion; ispilateral loss of all
sensation and flaccid paralysis
at level of lesion. If above T1
--> Horner's.
Ptosis(little) , Anhidrosis, Miosis, Depends on underlying Associated with trauma,
Enophthalmos, Loss of cause Brown-Sequard,
ciliospinal reflex Syringomyelia, Lateral
medullary syndroma (PICA),
Pancoast tumor (tumor in
apex of lung, impinges on
cervical ganglion)
Dimentia (most common Patients usually die of Cannot be definitively
cause), hydrocephalus ex infection. Amyloid can diagnosed until autopsy. NF
vacuo, impairment of higher cause amyloid tangles (tau) best seen with
intellectual function, no focal angiopathy --> silver stain, beta-amyloid
deficits intracrainial plaques (Abeta). Both =
hemmorrhage. Atrophy senile plaque. Associated
--> bridging vein with Down's Syndrome (Chr
rupture (subdural 21)
PICK'D - Progressive degeration Pick bodies (tau),
of neurons, Intracytoplasmic frontotemporal atrophy
Pick Bodies, Cortical atrophy,
Knife edge gyri.

Rapidly progressive dimentia Death usually within Prions cause change in

with myoclonus one year proteins from alpha helix to
beta sheet.

Degeneration (alzheimer's,
CJD), Wilson's, Endocrine
(hypothyroid), Space occupying
lesion (chronic subdural
hematoma), Toxic (alcohol)

UMN and LMN findings Terminal

LMN findings plus sensory Incurable

deficits (distinguishes from
ALS). Causes atrophy of
muscles of lower legs. Legs
have an "inverted bottle"
appearance; hammer toe. Late
stages can spread to hands and
Siezures, port wine stain in V1 Can cause glaucoma, Usually presents as siezures
distribution, ipsilateral siezures, hemiparesis, in babies. CT/MRI to detect
leptomeningeal angiomas, and mental retardation brain abnormalities.
pheo Treatment is symptomatic
(anticonvulsants for
siezures, etc)

Mental retardation, Candlestick drippings' Mental retardation in

Hamartomas in CNS, skin, of SEGA - can lead to infancy, angiofibromas on
organs; cardiac rhabdomyoma, noncommunicating HC face
renal angiomyolipoma,
subependymal giant cells
astrocytoma ('candlestick
drippings'), sebaceous
adenoma, mitral regurg,
siezures, "ash-leaf" spots,
shagreen patches.
Café-au-lait spots, Lisch Depends on associated CAFÉ SPOT: Café au-lait
nodules (pigmented iris symptoms (ie brain spots, Axillary and inguinal
hamartoma), neurofibromas in tumor, pheo) freckling, Fibroma, Eye (lisch
skin (elephant hide), optic nodules), Skeletal (bowing
gliomas, pheos, Wilm's tumors leg), Positive family
history/Pheo, Optic Tumor
Café au lait spots, Spinal cord Bilateral acoustic neuromas
lesions (astrocytomas, (schwanommas) is almost
epindymomas, schwannomas, definitely neurofibromatosis
or meningiomas), Acoustic type II.
Schwanommas, Meningiomas,
and Eye lesions in over 90%
(juvenile cataracts)
Cavernous hemangiomas in Cavernous hemangioma
skin, mucosa, organs; bilateral
renal cell carcinoma;
hemangioblastoma in retina,
brain stem, cerebellum;
Hypoplasia of cerebellar
vermis, cystic dilation of 4th
ventrical, noncommunicating

Like a permanent,
infantile form of polio

AKA Leu Gehrig's


Argyll Robertson pupils,

AKA prostitute's pupils,
accommodate but don't

Fratastic - frataxin gene,

always stumbling,
staggering, falling,
tingling extremities.

PAMELa is Horny
Senile plaque (silver

Pick bodies (silver stain)

Spongiform cortex

MLD - Myelin problems

due to Lysosomal
storage Dysfunction

High arch due to muscle

Sturge-Weber - Siezure,
Wine stain.

"zits (sebaceous
adenomas), fits
(siezures), and nitwits
(mental retardation)"

Not the SAME as type I':

S: Skin, Spinal cord, A:
Acoustic Neuromas, M:
meningiomas, E: Eyes

Increased renal cancer,
Pheo, Eye dysfunction,
Liver, pancreas, kidney
Dandy Walker
Syndrome: Dilated 4th
ventricle, Water on the
brain, Small vermis.