Disease/syndrome Inciting Incident Structures Affected Poliomyelitis

Disease/syndrome Inciting incident Structures affected
Poliomyelitis Poliovirus infection (fecal-oral) Anterior horn cells of

Replication in oropharynx and the spinal cord
small intestine --> blood --> CNS
Werdnig-Hoffman Autosomal recessive inheritance Degeneration of

disease anterior horn cells
Amyotrophic Lateral Sporadic, defect in Superoxide UMN and LMN, no

Sclerosis (ALS) dismutase 1 (SOD1 on chr 21), or sensory involvement
betel nut ingestion
Tabes dorsalis Tertiary syphilis Degeneration of

dorsal columns and
dorsal roots
Friedreich's Ataxia Autosomal recessive GAA repeat Mitochondria.

disorder (Frataxin gene) Cerebellum,
Posterior/Lateral
spinal cord,
peripheral
neuropathy, Heart
Brown-Sequard Hemisection of spinal cord DC-ML, STT,

syndrome corticospinal, UMN,
LMN
Horner's Syndrome Interruption of pathway from Pupils, eyelid smooth

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

lobes (spares parietal
and 2/3 of superior
temporal gyrus
Creutzfeldt-Jakob Corneal transplantation, human Cortex (viral

disease brain contact, improperly encephalitis due to
sterilized electrodes, ingestion of prions)
bovine tissues with "mad cow".
Dementia VITAMIN D WEST mnemonic Vitamin Deficiency

(B12, folate,
thiamine)/Vascular,
Intracranial tumor,
Trauma, Anoxia,
Metabolic (diabetes),
Infection (HIV,
encephalitis,
syphilis), Normal
pressure
hydrocephalus
Metachromatic Autosomal recessive lysozomal CNS and PNS,

Leukodystrophy storage disease (arylsulfatase A Impaired production
deficiency) of myelin sheath due
to buildup of
sulfatides
Charcot-Marie-Tooth Autosomal Dominant. Defective Peripheral nerves
Disease (AKA production of proteins involved
Hereditary Motor and in the structure and function of
Sensory Neuropathy peripheral nerves or the myelin
(HMSN)) sheath
Sturge-Weber Congenital - sporadic or somatic skin, adrenals, eyes,

Syndrome mosaicism brain
Tuberous Sclerosis Autosomal Dominant: tuberin or CNS, skin, heart,

hamartin gene. kidneys.
Neurofibromatosis Autosomal dominant. Mutated Skin, eyes, kidney

type I (von NF-1 on Chromosome 17 ('von
Recklinghausen's) recklinghausen' has 17 letters)
Neurofibromatosis Autosomal dominant. Chr 22 Nerves, skin

Type II ('Neurofibromatosis Type 2' has
22 letters)
von Hippel-Lindau Autosomal Dominant. VHL Skin, mucosa, brain,

disease Mutation on chromosome 3 kidney, eyes
(tumor suppressor)
Dandy-Walker congenital Brain
malformation
Symptoms Prognosis Diagnosis/Treatment
Headache, F/N, abd pain, sore throat, Paralysis is temporary, but CSF will have lymphocytic
LMN distruction (fasciculations, flaccid permanent deformity can pleocytosis, slight protein
paralysis, hyporeflexia, atrophy) occur. elevation. Can recover virus from
stool or throat.
floppy baby, tongue fasciculations Death around 7 months, EMG, absent reflexes
(LMN only) usually due to pneumonia
UMN and LMN findings, atrophy of the Eventual paralysis of

intrinsic hand muscles, babinski sign. respiratory muscles; survival
Commonly presents with 3-5 yrs.
fasciculations. 40-60 y/o
Impaired proprioception and FTA-ABS (Fluorescent Treponemal

locomotor ataxia. Charcot's joints, Antibody Absorption test)
shooting pain, Argyll Robertson pupils,
absent DTRs, positive Romberg.
Staggering gait, frequent falling, Death due to hypertrophic Usually presents with
nystagmus, dysarthria, pes cavus, cardiomyopathy kyphoscoliosis in childhood
hammer toes, hypertrophic
cardiomyopathy, kyphoscoliosis
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 cause Associated with trauma, Brown-
Enophthalmos, Loss of ciliospinal reflex Sequard, Syringomyelia, Lateral
medullary syndroma (PICA),
Pancoast tumor (tumor in apex of
lung, impinges on cervical
ganglion)
Dimentia (most common cause), Patients usually die of Cannot be definitively diagnosed
hydrocephalus ex vacuo, impairment infection. Amyloid can cause until autopsy. NF tangles (tau) best
of higher intellectual function, no focal amyloid angiopathy --> seen with silver stain, beta-amyloid
deficits intracrainial hemmorrhage. plaques (Abeta). Both = senile
Atrophy --> bridging vein plaque. Associated with Down's
rupture (subdural Syndrome (Chr 21)
hematoma)
PICK'D - Progressive degeration of Pick bodies (tau), frontotemporal

neurons, Intracytoplasmic Pick Bodies, atrophy
Cortical atrophy, Knife edge gyri.
Rapidly progressive dimentia with Death usually within one Prions cause change in proteins
myoclonus year 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 deficits Incurable
(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 arms.
Siezures, port wine stain in V1 Can cause glaucoma, Usually presents as siezures in
distribution, ipsilateral leptomeningeal siezures, hemiparesis, and babies. CT/MRI to detect brain
angiomas, pheo mental retardation abnormalities. Treatment is
symptomatic (anticonvulsants for
siezures, etc)
Mental retardation, Hamartomas in Candlestick drippings' of Mental retardation in infancy,

CNS, skin, organs; cardiac SEGA - can lead to angiofibromas on face
rhabdomyoma, renal angiomyolipoma, noncommunicating HC
subependymal giant cells astrocytoma
('candlestick drippings'), sebaceous
adenoma, mitral regurg, siezures, "ash-
leaf" spots, shagreen patches.
Café-au-lait spots, Lisch nodules Depends on associated CAFÉ SPOT: Café au-lait spots,
(pigmented iris hamartoma), symptoms (ie brain tumor, Axillary and inguinal freckling,
neurofibromas in skin (elephant hide), pheo) Fibroma, Eye (lisch nodules),
optic gliomas, pheos, Wilm's tumors Skeletal (bowing leg), Positive
family history/Pheo, Optic Tumor
(glioma)
Café au lait spots, Spinal cord lesions Bilateral acoustic neuromas

(astrocytomas, epindymomas, (schwanommas) is almost
schwannomas, or meningiomas), definitely neurofibromatosis type
Acoustic Schwanommas, II.
Meningiomas, and Eye lesions in over
90%(juvenile cataracts)
Cavernous hemangiomas in skin, Cavernous hemangioma

mucosa, organs; bilateral renal cell
carcinoma; hemangioblastoma in
retina, brain stem, cerebellum;
Pheochromocytomas
Hypoplasia of cerebellar vermis, cystic
dilation of 4th ventrical,
noncommunicating hydrocephalus
Pic/Diagram/Mnemonic
Like a permanent, infantile

form of polio
AKA Leu Gehrig's Disease
Argyll Robertson pupils, AKA

prostitute's pupils,
accommodate but don't react.
Fratastic - frataxin gene,

always stumbling, staggering,
falling, tingling extremities.
PAMELa is Horny (symtoms)

Senile plaque (silver stain)
Pick bodies (silver stain)
Spongiform cortex
MLD - Myelin problems due to

Lysosomal storage Dysfunction
High arch due to muscle
atrophy
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
HIPEL: Hemangioblastomas,
Increased renal cancer, Pheo,
Eye dysfunction, Liver,
pancreas, kidney cysts
Dandy Walker Syndrome:
Dilated 4th ventricle, Water on
the brain, Small vermis.

Disease/syndrome Inciting Incident Structures Affected Poliomyelitis

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Disease/syndrome Inciting Incident Structures Affected Poliomyelitis

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Disease/syndrome Inciting incident Structures affected

Poliomyelitis Poliovirus infection (fecal-oral) Anterior horn cells of

Werdnig-Hoffman Autosomal recessive inheritance Degeneration of

Amyotrophic Lateral Sporadic, defect in Superoxide UMN and LMN, no

Tabes dorsalis Tertiary syphilis Degeneration of

Friedreich's Ataxia Autosomal recessive GAA repeat Mitochondria.

Brown-Sequard Hemisection of spinal cord DC-ML, STT,

Horner's Syndrome Interruption of pathway from Pupils, eyelid smooth

Pick's Disease Frontotemporal

Creutzfeldt-Jakob Corneal transplantation, human Cortex (viral

Dementia VITAMIN D WEST mnemonic Vitamin Deficiency

Metachromatic Autosomal recessive lysozomal CNS and PNS,

Sturge-Weber Congenital - sporadic or somatic skin, adrenals, eyes,

Tuberous Sclerosis Autosomal Dominant: tuberin or CNS, skin, heart,

Neurofibromatosis Autosomal dominant. Mutated Skin, eyes, kidney

Neurofibromatosis Autosomal dominant. Chr 22 Nerves, skin

von Hippel-Lindau Autosomal Dominant. VHL Skin, mucosa, brain,

UMN and LMN findings, atrophy of the Eventual paralysis of

Impaired proprioception and FTA-ABS (Fluorescent Treponemal

Ipsilateral UMN signs in corticospinal

PICK'D - Progressive degeration of Pick bodies (tau), frontotemporal

Degeneration (alzheimer's, CJD),

UMN and LMN findings Terminal

Mental retardation, Hamartomas in Candlestick drippings' of Mental retardation in infancy,

Café au lait spots, Spinal cord lesions Bilateral acoustic neuromas

Cavernous hemangiomas in skin, Cavernous hemangioma

Like a permanent, infantile

AKA Leu Gehrig's Disease

Argyll Robertson pupils, AKA

Fratastic - frataxin gene,

PAMELa is Horny (symtoms)

Pick bodies (silver stain)

MLD - Myelin problems due to

Sturge-Weber - Siezure, Wine

"zits (sebaceous adenomas),

Not the SAME as type I': S:

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