| Term 
 
        |     Hirschsprung's disease/megacolon |  | Definition 
 
        | Cause: failure of NC migration=lack of ENS ctrl. Sx: dilation, hypertrophy, constipation/fecal retention  |  | 
        |  | 
        
        | Term 
 
        |     Familial dysautonomia (Riley-Day syndrome)  |  | Definition 
 
        | Cause: (AR, Jews only, 1:3700) loss of ANS neurons in sensory ganglia (periphery)   Sx: abnormal sweating, BP instability, poor muscle tone in GI tract, sensory loss
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Causes: SNS dysfunction somewhere btw. brainstem and carotid plexus; Pancoast's tumor, thyroid carcinoma/goitre, carotid or aortic dissection, MS, Lateral Medullary Syndrome, basically anything involving BS, nerve plexi from T2 to eyes...    Sx: 1. miosis 2. ptosis 3. anhidrosis   DDx: no #3=SNS dysfxn somewhere btw. carotid plexus and eye/target=ICA thrombosis Why: SNS to eye wraps around ICA, SNS to facial sweat glands follows External carotid a. 
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: partial or complete spinal cord injury=loss of descending (CNS) inhibitory ctrl., altered adrenergicR sensitivity   Sx: BP dysregulation (life-threatening), abnormal CV control triggered by noxious (pain, etc.) OR non-noxious stimuli (bladder distension, etc.)
 |  | 
        |  | 
        
        | Term 
 
        |     Lateral vs. medial   hypothalamic lesions  |  | Definition 
 
        | Lateral=anorexia, weight loss Medial=obesity, weight gain   Note: Prader-Willi (15q deletion, 1:12,000 RARE) causes excessive, chronic hunger +LDs, small stature)   Caveat: in genetics, parental imprinting causes PWS when gene is inherited from FATHER, inherited from mother=Angelman (smiley-overly affectionate, LDs, fascination with water (ha), not very verbal, walk like a puppet 
 |  | 
        |  | 
        
        | Term 
 
        |     Poikilothermia vs. hyperthermia   (hypothalamic lesions)    |  | Definition 
 
        | Anterior nucleus BILATERAL lesion=hyperthermia   Posterior nuc. BILAT=poikilothermia (inability to regulate body temp. at all; anterior nucleus fibers run thru posterior nucleus)    Caveat: arcuate nucleus contains key feeding-related neurons (acted upon by leptin and other hormones)
 1. AgRP/NPY: increase feeding 2. POMC/CART: decrease feeding  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: congenital tumor (often calcified) arising from Rathke's pouch (ectoderm diverticulum creating adenohypophysis)   Note: most common supratentorial tumor in children   Sx:  1. optic chiasm pressure=bilateral hemianopsia 2. pressure on hypo=hypothalamic syndrome:   1. DI, obesity/adiposity, somnolence (DDx: OSA), temperature regulation disturbances (seems to be a hallmark of hypothalamic dysfunction) 
   |  | 
        |  | 
        
        | Term 
 
        |     Kluver-Busy syndrome (KBS) |  | Definition 
 
        | Cause: medial temporal (rhinencephalon esp.), amygdala lesions (bilateral)
   Etiology: trauma (infarcs, anoxia, status epilepticus), Herpes encephalitis, Pick's, Alzhiemer's, subarachnoid hemorrhage 
   Sx:  1. increased oral activity 2. HYPERsexuality 3. hypermetamorphosis: react to/fascination w/ everything one sees 4. Placidity: flat affect, lack of fear & aggression 5. Visual agnosia: inability to recog. familiar objects 6. Bulimia  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: (medial) temporal lobe SEIZURE (hyperexcitability)    Sx:  1. Philosophical, cosmic preoccupations 2. Altered sexuality (usually HYPO) 3. Hypergraphia: writes a lot (cosmic stuff) 4. Viscosity: interpersonal clingyness/talkativeness, otherwise known as Interictal personality 
 |  | 
        |  | 
        
        | Term 
 
        |     Cocaine and heroin:   effects on mesolimbic system  |  | Definition 
 
        | Cocaine=inhibits DA reuptake Heroin=increases dopaminergic neuron activity/firing    Compare: amphetamines increase extracellular DA, NE and 5-HT by inhibiting reuptake and inducing vesicular emptying into synapses 
   Mesolimbic system: dopaminergic pleasure/motivation center of CNS 
 |  | 
        |  | 
        
        | Term 
 
        | Lesion/stimulation/tumor studies: 1.  Septal nuclei/area 2. Amygdala 3. Hippocampus 4. Cingulate    |  | Definition 
 
        | 1. Septal lesion=  a. Lesion=re-established normal sexuality in cat who was already hypersexual due to amygdala lesion (see: KBS) b. Stimulation=hypersexuality c. Lesion=lowered sexuality, more sociability d. tumor=rage, irritability ...seems like septum is a positive ctrl. for SEX 
   2. Amygdala
 Lesion=HYPOemotionality, social isolation (FXN=memory-emotional integration)    3. Hippo Lesion=declarative memory (facts) amnesia    Caveat: episodic memory (events) + semantic (facts)=declarative/explicit memory   Implicit memory=procedural, priming, assoc. learning (behav & operatant conditioning, non-assoc. learning (habits, etc.)) 
   4. Cingulate  Lesion=hypersexuality (disinhibition), OCD, anxiety, depression, bulimia, placidity, apathy   Caveat: very similar to KBS (except for bolded sx) b/c AC is W/IN the medial temporal lobe (lesioned in KBS).  |  | 
        |  | 
        
        | Term 
 
        | Clinical applications of cingulate gyrus fxn: 1. Pain 2. OCD |  | Definition 
 
        | 1. Decreased chronic pain 2. Cingulotomy has been used to treat OCD |  | 
        |  | 
        
        | Term 
 
        |  Other Sx of Cingulate lesions/dysfunction    1. Sociopathy correlation
   2. Bilateral AC+OFC lesion=sx?  |  | Definition 
 
        | 1. Sociopathy: reduced emotional responses   2. (Bilateral AC + OFC lesions): reduced judgement and common sense with preserved memory, IQ.  Reduced ability to read and adapt to social cues  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: Anterior cingulate lesion   Sx: tending not to move (akinesis) or speak (mutism)  |  | 
        |  | 
        
        | Term 
 
        |     (Gilles de la) Tourette syndrome (GTS) |  | Definition 
 
        | Cause: anterior cingulate decreased activity (decreased utilization of glucose in AC and insula)    Remember: AC=emotion, motor (PC=memory, visuospatial tasks) 
   Sx:  1. affective vocalizations (emotion + motor)
 2. complex coordinated movements (tics) (motor) 3. OCD (emotion)    Tx: disconnect (surgical) AC from Thalamus 
  
 |  | 
        |  | 
        
        | Term 
 
        |     Age-Associated Memory Impairment  |  | Definition 
 
        | Cause: +50 y/o who score >1 sd below mean for memory task performance and complain of memory problems   Caveat: memory STARTS to decline at 18 y/o; at 70-80, performance is only 50% what it was at 18
 |  | 
        |  | 
        
        | Term 
 
        | Compare: cortical vs. subcortical dementia 1. retrieval vs. encoding of memory 2. explicit vs. implicit memory functioning 3. CC/examples  4. Clinical presentation of each (DDx) |  | Definition 
 
        | 1. Cortical=impaired storage/retrieval Sunbcortical=impaired formation/encoding   2. Cortical=impaired explicit, intact implicit Subcortical=increased explicit (compensatory), decr. implicit   3.   Cortical=Alzheimer's, Pick's, Creutzfeld-Jakob Subcortical=MS, hydrocephalus, Parkinson's, Huntington's, microvascular disease    4. DDx:  Cortical=impaired learning, recall, recognition, semantic memory Subcortical=impaired retrieval, intact encoding as evidenced by intact recognition memory 
 |  | 
        |  | 
        
        | Term 
 
        |     Wernicke-Korsakoff syndrome  |  | Definition 
 
        | Cause: alcoholism-->thiamine deficiency-->dysfxn of (1) mammillary bodies (2) thalamus   Sx:  1. Acute=Wernicke's encephalopathy:  a. confusion b. oculomotor c. ataxia  2. Chronic=Korsakoff's syndrome:  a. chronic anterograde amnesia b. temorally-graded retrograde amnesia c. confabulation  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: neural tangles, cholinergic deficits in hippo, P-F-T lobes (relative sparing: BG, occipital, cerebellum, BS)    Sx: 1. Episodic memory impaired the most (events) 2. Semantic memory progressively affected 3. Implicit memory: priming is impaired progressively, procedural can be intact 4. Working memory deteriorates progressively  |  | 
        |  | 
        
        | Term 
 
        | Vascular brain disorders:  1. vessels involed 2. sx  |  | Definition 
 
        | 1. PCA, thalamic penetrating aa, AComm (aneurysm)
 2. ACommA syndrome: Basal forebrain amnesia, confabulation, personality change  3. Small vessel disease  |  | 
        |  | 
        
        | Term 
 
        |     Ischemic vs. histotoxic cerebral anoxia  |  | Definition 
 
        | 1. Ischemic=circulatory dysfxn, tissue perfusion not adequate   2. Histotoxic=chemical intereference w/ the cellular utilization of oxygen  |  | 
        |  | 
        
        | Term 
 
        |     Memory deficits seen in R vs. L hemisphere lesions  |  | Definition 
 
        | 1. R=LESS severe deficits in working memory-->recognition intact   2. L=more severe b/c L hemisphere is involved more with encoding, whereas R hemisphere is utilized more in retrieval ("R&R")
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: cerebrovascular susceptibility, lasts 3-24 hrs, recurrence: 10%    Sx:  1. sudden onset, profound amnesia, cannot learn new information 2. appear confused, lose track of thoughts, events 3. OK with basic personal info  |  | 
        |  | 
        
        | Term 
 
        | Functional/psychogenic amnesias:   1. Somatoform Disorder 2. Malingering  |  | Definition 
 
        | Hallmarks: amnesia for one's own name(exclusive) selective loss of personal info, test inconsistencies, retrograde>>anterograde amnesia
   1. Somatoform disorders Cause: psychological  Sx: generalized pain, dizziness, depression, nausea... Examples: hypochondriasis, coversion disorder    Conversion disorder: presence of sensorimotor dysfunction that suggests neurological condition    2. Malingering Cause: NONE (medical) Sx: fabricating/exaggerating sx for personal GAIN/positive reinforcement  |  | 
        |  | 
        
        | Term 
 
        | Experiment: brainstem transection Effect on sleep-wake cycles/consciousness?    1. Level=midbrain (above RF) 2. Level=caudal medulla (below RF)  |  | Definition 
 
        | 1. Midbrain=coma   2. Caudal medulla=sleep impaired-->AWAKE   Meaning: ascending arousal system (brainstem-->higher CNS centers)=RF   Caveat: 1. NREM-on center=VLPO (GABA/galanin desc. inhibition of RF arousal system) 2. REM-on center=PPT/LDT (cholinergic), aminergic neurons fall silent (LC, N. Raphe, TMN: 5-HT, NE, Histamine respectively)=disinhibition of PPT/LDT lead to REM 
 |  | 
        |  | 
        
        | Term 
 
        | Changes in sleep architecture through life: 1. NREM 2. REM  3. Total sleep time  4. REM:NREM ratio*  |  | Definition 
 
        | 1. NREM peaks in infancy, decreases with age 2. REM= decreases drastically from conception to birth, decreases slightly with age birth-->death *18% REM 30s-40s (least % throughout life) 3. TST decreases conception-->death 4. LOTS of REM in womb (60:40), normalizes out to the usual 20:80 by age 3-5 
 |  | 
        |  | 
        
        | Term 
 
        | Sleep state dissociation disorders:   1. NREM 2. REM  |  | Definition 
 
        | NREM: 1. Somnambulism 2. Pavor Nocturnus (night terrors)
 3. Somniloquy
   REM: 1. REM Behavioral Disorder: incomplete paralysis during REM 2. Narcolepsy  3. Cataplexy  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause:   Sx: 1. Excessive Daytime sleepiness (EDS) 2. Hypnagogia: vivid sensory hallucinations while falling asleep (transition period) 3. Sudden shift from WAKE-->REM 4. Cataplexy: sudden loss of/deficit in motor ctrl. 5. Sleep paralysis: transient paralysis upon waking from sleep   Caveat: SSRI Discontinuation Syndrome (discontinuation of depression meds=motor deficits) 
 |  | 
        |  | 
        
        | Term 
 
        |     Sleep Deprivation signs/Sx  |  | Definition 
 
        | DECREASED: 1. alertness 2. body temperature (daily/waking temperature regulation pattern maintained b/c waking body temp. reg. is a distinct system)  3. TSH, GH, PRL, leptin 4. CNS glucose utilization    INCREASED: 1. co-morbidities (thrombosis, CV diseases, decr. lifespan, fibromyalgia, etc.)
 2. Appetite, metabolism, SNS activation  3. Immune: phagocytes, cytokines 4. Ox stress: aminotransferases (ATs)  |  | 
        |  | 
        
        | Term 
 
        |   Pathological Left-Handedness  |  | Definition 
 
        | Cause: early brain damage leading to a shift in development of handedness and concomitant atypical (cerebral) dominance patterns (R dominant)   Sx: R cerebral dominance, signs of early BD, sinistral  |  | 
        |  | 
        
        | Term 
 
        |   Brain damage  and Language Cerebral Dominance development  |  | Definition 
 
        | 1. BD before 1 y/o: Language spared, often generalized cognitive deficit   2. BD 1-5 y/o: Language spared, crowding often (visual-spatial deficits; normally a R-hemisphere cognition)   3. BD >5 y/o: Language deficits emerge; MEANS: brain plasticity declines with age! |  | 
        |  | 
        
        | Term 
 
        | Disorders of speech: 1. Mutism 2. Aphonia 3. Dysarthria 4. Anarthria/aphemia   Disorders of LANGUAGE:  Aphasias (Broca's, Wernicke's, transcorticals, conduction...)  |  | Definition 
 
        | 1. Mutism: absence of speech/tendency to not speak Causes: organic  (see: ant. cingulate, Tourette's..), choice   2. Aphonia: inability to produce vocalizations Cause: vocal cord damage/dysfxn or periph. n(n).
   3. Dysarthria: impaired articulation 4. Anarthria/aphemia: inability to articulate Cause: neuromotor (or damage to white matter tracts underlying Broca's area efferents)
   Aphasias: acquired linguistic dysfunction due to CNS damage *Damage location-->type of aphasia (many)  |  | 
        |  | 
        
        | Term 
 
        | Localizing/classifying Disorders of Language: 1. Fluency 2. Comprehension 3. Repetition    Fluent aphasias vs. non-fluent aphasias  |  | Definition 
 
        | Fluency=ability to perform fluid speech (defined as ability to string together 3 or more words per utterance) 3 parameters: 1. phrase length 2. effort 3. prosody: preservation of normal speech intonation  Comprehension=auditory understanding of language Repetition=ability to repeat phrases/instructions/etc.   Fluent aphasias=posterior BD (Wernicke's) Non-fluent aphasias=anterior BD (Broca's)
     |  | 
        |  | 
        
        | Term 
 
        | Fluent aphasias: 1. Transcortical sensory 2. Wernicke's 3. Conduction 4. Nominal/anomic   What structures/regions lesioned?  Comprehension intact?  Repetition?  |  | Definition 
 
        | 1. Transcortical sensory: lesions in angular gyrus or posterior, inferior temporal lobes Sx: fluent (paraphasia), comprehension, repetition   2. Wernicke's: para-Sylvian lesions (posterior superior temporal lobe) Sx: fluent (para), comprehension, repetition   3. Conduction: lesion=arcuate fasciculus (connects Broca's<-->Wernicke's) Sx: fuent (para), comprehension, repetition   4. Anomic: lesion=temporo-occipital jxn area  Sx: inability to assign names/meaning to objects, images, etc. Fluency, comp & rep all intact 
 |  | 
        |  | 
        
        | Term 
 
        | Non-fluent aphasias: 1. Broca's 2. Transcortical motor 3. Transcortical mixed/isolation of speech 4. Global  |  | Definition 
 
        | 1. Broca's: lesion=dorsolateral frontal (opercular part of inferior frontal gyrus) Sx: fluency, comprehension,repetition   2. Transcortical motor: lesion=SMA or M-I (just posterior to where Broca's aphasia lesions would be) Sx: fluency, comprehension, repetition   3. Transcortical mixed/isolated: lesion=lesions in Broca's and Wernicke's areas or related secondary cortices Sx: fluency, comprehension, repetition OK (weird clinical picture: hanging out with a robot)
   4. Global: all structures affected related to language enough to disable all 3: fluency, comp. & rep. |  | 
        |  | 
        
        | Term 
 
        | Clinical definitions: levels of consciousness (LOC)
   1. awake 2. sleepy 3. stupor 4. coma  |  | Definition 
 
        | 1. ability to maintain wakefulness w/o stimulation 2. arousable w/ stimulation  3. arousable w/ stimulation, unable to maintain wakefulness w/o continuous stimulation 4. unarousable w/ ANY stimulation  |  | 
        |  | 
        
        | Term 
 
        |   Metabolic coma vs. Structural coma  |  | Definition 
 
        | Diminished LOC=lesion to Retcular activating system (BS RF)   Metabolic: bilateral cerebral dysfunction NOT bilateral-->NO COMA    Structural: (1) brainstem (RF=reticular formation) (2) bilateral thalamus lesions  |  | 
        |  | 
        
        | Term 
 
        | Diagnosis?   1. Complete R-sided hemiparesis  (face, body, works) 2. Eyes looking to R  |  | Definition 
 
        | Dx: lesion in L frontal lobe   1. L motor cortex dysfunction 2. L FEF dysfunction-->unopposed R FEF pushed eyes to R  |  | 
        |  | 
        
        | Term 
 
        | Primary vs. Cotrical sensation: 1. Difference 2. Examples of cortical sensation disorders.  Where do these disorders localize to in cortex?  |  | Definition 
 
        | 1. Primary=pain, vibration, temperature, etc. Cortical=interpretation of sensory input/meaning   2. Parietal lobe lesion (contralateral)= Agraphesthesia: inability to interpret letters/#s written on skin (palms usually) Astereognosis: inability to assign proper names of shapes to objects (recognition defect)    Inferior parietal lobule (contralateral)= Acalculia: acquired difficulty w/ simple mathematical tasks (Note: dyscalculia is a congenital similar disorder acquired when one learns math) Finger agnosia: inability to recognize own thumb (agnosias: inability to recognize familiar objects) Dys/agraphia: difficulty/inability to write (regardless of ability to read), mixing up words, symetrical letters, etc. R-L confusion: "touch your R thumb to your L ear"  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: lesion to inferior parietal lobule (L IPL if cerebral dominance is normal)   Sx: 1. Acalculia 2. Agraphia 3. L-R confusion 4. Finger agnosia  |  | 
        |  | 
        
        | Term 
 
        | Neurofibromatosis Type 1: 1. Incidence 2. Inheritance, penetrance vs. expressivity (cause) 3. Diagnostic criteria (7) 4. Other sx    |  | Definition 
 
        | 1. 1:3000 (common) 2. AD, complete penetrance (if are hetero for NF1 mutant, you WILL have sx), variable expression (sx vary widely)   3. Dx criteria:
 (1) ≥6 cafe-au-lait spots-->typically first sign -80% will have 6 by 1 y/o 
 (2) intertrigenous freckles (axillary, inguinal) -75%, usually appears in childhood 
 (3) ≥2 neurofibromas or 1 plexiform neurofibroma -NFs: acquire, progressive, 100s-1000s, thoughout life -PNFs: 25%, congenital, 10% malignancy, arise from Schwann cell precursors (malignant periph. n. sheath tumor; MPNST)  (4) Optic n. glioma - 15%, by 4 y/o, astrocytoma, 50% asymptomatic (sx: proptosis, strabismus, vision-loss) 
 (5) ≥2 Lisch nodules (almost exclusive to NF1) -bilateral, pigmented hamartoma, most NF1 px +10 y/o 
 (6) Bone abnormalities (scoliosis, tibial pseudoarthritis) -NF1 accounts for 50% TPA, only 5% NF1 px actually have TPA) 
 (7) 1°  relative with NF1 - chromosome 17q, >300 muts, over 50% spontaneous 
   4. Other sx: LD (50%), HTN, vascular dysplasia, malignancy, macrocephaly, short stature, decr. life expectancy (~15 yr.)  |  | 
        |  | 
        
        | Term 
 
        |   RAS Pathway disorders (6) |  | Definition 
 
        |  All are similar with characteristic facies (hypertelorism, flattened nose, ptosis, strabismus), cardiovascular, lymph and cutaneous symptoms.  All characterized (clinically) by sx, genetically by the distinct tumor suppressor mutated in the RAS pathway.    Distinguishing Sx:  1. NF1 (Neurofibrin-->p53-->MPNST)  Lisch nodules (iris), intertrigenous freckles, optic glioma  2. Noonan Syndrome (NS) (SHP2/PTPN11)
 Lentigines, facies, webbed neck, chest abn  3. Cranio-Facial-Cut. Syndrome (CFCS) (BRAF)
 More severe LD, skin path, GI problems, coarser face, NO neoplasias; JIMMY D.
 4. Costello Syndrome (HRAS)
 Papillomata, joint laxity, failure to thrive infancy, 15% malignancy risk  5. LEOPARD Syndrome (SHP2) (Acronym for sx) Note: deafness, lentigines 
 6. NF1-Like Syndrome (SPRED1) No neural-derived tumors; lipomas & other tumor types 
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: chronic, demyelinating disease of CNS; both sensory & motor, AI?, gliosis/sclerosis (scarring)   Sx: 1. Paralysis, sensorimotor deficits (demyelination) 2. Periods of remission-relapse over years 
   |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: acute, inflammatory demyelination in PNS; periph nn. of muscle & skin.  AI-myelin proteins (MBP, MAG, but not MOG (CNS only))
   Sx:  1. Sensorimotor disfunction (slowed conduction due to demyelination...similar sx to MS, but different (peripheral) pattern) 
 |  | 
        |  | 
        
        | Term 
 
        |     Hyperkalemic Periodic Paralysis (HYPP) or Gamstorp Periodic Adynamy  |  | Definition 
 
        | Cause: mutation in myocyte Na+ channels causing them to remain OPEN longer than normal (gene: SCN4A)
   Sx:  1. Episodic muscle weakness and paralysis 2. Hyperkalemia (not always though) 3. Myotonia: muscle stiffness, spasms   Triggered by post-exercise rest, high-K+ foods, stress, etc. |  | 
        |  | 
        
        | Term 
 
        | Myotonias:   1. Thomsen's (congenital)
 2. Becker's  |  | Definition 
 
        | Myotonia: muscle stiffness, spasms brought on by inactivity, cold (relieved by EXERCISE)   Cause: mutant Cl- channel (CLCN1) causing decreased Cl- conductance (in skeletal muscle, PCl is relatively high (unlike other tissues)-->PCl sets the resting Vm in skeletal myocytes   1. Thomsen's: AD inheritance, LESS severe 2. Becker's: AR inheritance, MORE severe  |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: Abs produced that bind to AChRs and block the stimulatory effect of ACh at post-synaptic membranes Classes: I=mild, II...V=SEVERE  Sx: 1. Muscle weakness (even though physical exam can be WNL) upon exertion, sudden onset
 2. Often affects eye mm. first 3. Muscles of mastication, facial expression also are especially susceptible    Tx: 1. AChE inhibitors (neostigmine, etc.) 2. Immunosuppression 3. Thymectomy (extreme cases)  |  | 
        |  | 
        
        | Term 
 
        |   Lambert-Eaton (Myasthenic) Syndrome (LEMS)  |  | Definition 
 
        | Cause: (AI) Abs bind, block pre-synaptic Ca2+ channels required for the Ca influx responsible for efficient exocytosis of ACh from vesicles (CaM-mediated activation of synaptotagmin, which then causes rapid fusion event)   Associations: small cell (usually) lung cancers (Abs directed at tumor cells, accidentally attach NMJs); 50% LEMS px have an associated malignancy    Sx: (similar to MG sx)  1. Unlike MG, ocular, facial & resp. mm. not affected as much; proximal limb mm. affected 2. ANS dysfunction sx (dry mouth, impotence) 3. Reduced reflexes   Tx: 1. Corticosteriods 2. aminopyrimidines (block IK(V), less K+ efflux, prolonged depolarization/AP) 3. Extreme: dialysis, IV immunoglobulins  |  | 
        |  | 
        
        | Term 
 
        |  Compare: 1. Dorsal rhizotomy/lesion 2. Ventral rhizotomy/lesion 3. Complete spinal transection  |  | Definition 
 
        | Rhizotomy: lesion/cutting of a spinal nerve ROOT   1. hypo/anesthesia (ipsilateral) 2. FLACCID (complete) paralysis, ANS nerves can be involved in ANTERIOR root lesions (ANS fibers pass out anteriorly from spinal cord), muscle atrophy  3. Initial "spinal shock"=no reflexes After: SPASTIC paralysis (due to removal of desc. cortical motor regulation/inhibition=spontaneous LMN APs) 
 |  | 
        |  | 
        
        | Term 
 
        | Compare:   LMN vs. UMN lesions  |  | Definition 
 
        | BOTH exhibit: 1. muscle weakness   LMN: 1. Muscle atrophy, fasciculations (no desc. ctrl.) 2. DECREASED reflexes & muscle tone   UMN: 1. (NO atrophy, fasciculations) 2. INCREASED reflexes & tone (once again: removal of desc. modulation=no inhibition) 
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: usually a vascular lesion or tumor to the VPL
  "A progression to dysesthesia"
 Sx: Initial: contralateral hemianalgesia Next: excessive pain w/ noxious stimuli (loud noises, for example) Later: pain provoked by ANY stimuli Usually sensory input threshold is raised, but once reached, it is overwhelming & EMOTIONALLY linked   Dysesthesia: constant pain w/ or w/o stimulus 
 |  | 
        |  | 
        
        | Term 
 
        | Dorsal column lesions of spinal cord: 1. Examples 2. Sx  |  | Definition 
 
        | Examples: (selective DC lesions are rare)
 1. Tabes dorsalis 2. Neurosyphilis (advanced stages of infection) 3. Traums (stab wounds) to post. spinal cord    Sx: 1. If below caudal medulla: IPSI touch/vib loss (w/ sparing of minor crude touch that decussated to contra ALS tracts) 2. IF above caudal medulla: CONTRA touch/vib loss    |  | 
        |  | 
        
        | Term 
 
        | Nociceptive vs. neuropathic pain (and Tx): 1. NSAIDs 2. Opioids 3. Examples  |  | Definition 
 
        | Nociceptive=tissue damage (chemical, inflammatory) Sx: burning, prolonged quality (C-fiber mediated) Tx: NSAIDS (block prostaglandin synthesis from arachidonic acid-->pain mediation) Examples: rash, sprain, infected cuts More severe: rheumatoid arthritis, tumors of soft tissue, fractures 
   Neuropathic=nerve tissue damage  Sx: electrical, lancing quality  Tx: often do not respond to NSAIDs, opiods, so... tricyclics (anti-depressant), anti-convulsants (raise neuron AP thresholds) Examples: post-herpetic neuralgia, diabetic neuropathy, nerve entrapment (carpal tunnel) 
 |  | 
        |  | 
        
        | Term 
 
        | Anterior vs. Central Cord Syndrome: 1. Causes (examples) 2. Sx  |  | Definition 
 
        | Anterior: unilateral=contra pain/temp loss, bi=total loss Examples: ant. spinal aa. occlusion,     Central: dermatome distribution of pain/temp. loss Example: syringomyelia, glial cysts, trauma (fall-->cervical stretch) 
 |  | 
        |  | 
        
        | Term 
 | Definition 
 
        | Cause: lesion to insular cortex   Sx: Inappropriate responses to noxious stimuli (Ex: painful pinch causes laughter, placcidity (not caring), etc.)  |  | 
        |  | 
        
        | Term 
 
        | Referred pain: 1. Cause 2. Review: spinal nerves carrying GVA from viscera Diaphragm Stomach Duodenum Kidneys/ureters Crotch Appendix Gallbladder  |  | Definition 
 
        | 1. Visceral pain fibers converge on same 2o neurons as somatic afferents (more common), so brain interprets spinothalamic input as coming from a dermatome instead of the organ itself "hurting"   2. Some common referred pain patterns: Diaphragm: C3-4 Heart/lungs: T1-4 (L mainly for HEART) Stomach: T6-9 (LEFT)
 Gallbladder: T7-8 (RIGHT)
 Duodenum: T9-10 Appendix: T10 (RIGHT)
 Crotch: T10-12 Kidney/ureter: L1-2 
 |  | 
        |  | 
        
        | Term 
 
        | (1) Trigeminal Neuralgia, (2) TMD   1. Causes 2. Sx  3. Tx  |  | Definition 
 
        | (1) Cause: TTT neuropathic pain (usually V2/V3) Sx: lancing, severe pain, brief episodes triggered by shaving, chewing (allodynia) Tx: carbamazopine (anticonvulsants: block INa(V) leading to hyperpolarization)    (2) Cause: chronic pain assoc. with chewing (nocicpetive pain, not neuropathic) Sx: ear pain, headaches, masticatory mm. pain) Tx: NSAIDs, opoids) |  | 
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        | Term 
 
        | Sensory deficits and CC examples:
 1. Peripheral nerve lesions  2. Complete cord transection  3. Anterior vs. posterior cord syndromes  4. Central cord syndrome (small vs. large) 5. Brown-Sequard Syndrome 6. Lateral Medullay Syndrome  |  | Definition 
 
        | 1. Periph N.: "glove & stocking" distribution Ex: trauma, diabetes, neuropathy    2. bilateral losses below (all GSA & GSE loss) Ex: MS, expanding tumor, posterior trauma    3. ANT: ant. spinal aa. occlusion (pain/temp loss)
 POST: (touch/vib loss), tabes dorsalis (syphilis)   4. Small: "cape-like" distrib. of pain/temp. loss Large: expands to afect DCML, GSE tracts-->usually crotch discrim. touch is spared (this is good) Ex: syringmyelia, C2 hyperextension (Reeves)   5. B-S Syndrome: CONTRA loss of pain/temp + IPSI touch/vib below level of lesion (pain/temp complete by 2-3 seg)   6. Lat Med Syn: loss of pain/temperature:  (1) ipsi face (2) contra body
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        | Term 
 
        | Color Vision Defects: 1. Red-Green Defects (Protanopes vs. Deutanopes) 2. Tritan defects 3. Blue Cone Monochromacy (BCM) 4. Rod Monochromacy/Achromatopsia  |  | Definition 
 
        | X-chrom: L/M opsin array (C203R mutan=GCPRs) 3-chrom: S opsin 7-chrom: Rhodopsin (rod-opsin)   1. Protan=red-deficient, duetan=green-deficient C203R mutant=G-cPR S-S bond residue (critical) 
 2. AD, incomplete penetrance, chrom-3 S opsin mutant in transmembrane domain-->blue deficits 3. L/M opsin array mutant: Sx: poor acuity, myopia, nystagmus, ERG amp. low  1-step mutant: loss of DNA enhancer=cannot txn opsin gene 2 step: fxnal receptor, mutant OPSIN   4. Absence of cone-based vision Sx: photophobia, poor acuity (20/200), myopia, scotoma, visual field defects 
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        | Term 
 | Definition 
 
        | Cause: OA1 mutant (GCPR), x-linked recessive (only males affected fully)
   Sx: decr./patchy pigmentation
 1. iris transillumination (iris=translucent) 2. fundus hypopigmentation 3. nystagmus, loss of visual acuity 4. foveal hypoplasia  5. skin macromelansosomes present (blotchy skin) 
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        | Term 
 
        | Wet vs. Dry AMD   1. Causes 2. Sx 
 |  | Definition 
 
        | Dry: "drusen deposity"=protein+fat deposits in Bruch's membrane, 90% AMD 50% assoc. with CFH gene sx: slow progression, can be asymptomatic or lead to photoR degen.   Wet: neuvascularization of choroid underlying retina, can progress rapidly, no gene association (yet) 
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        | Term 
 
        | Ophthamologic pathology: 1. Congenitally Full Disc 2. Papilledema, pseudopapilledema 3. Optic N. pallor 4. Forster-Kennedy Syndrome 5. Optic Neuritis 6. Transient Monocular Visual Loss/Obscuration  |  | Definition 
 
        | 1. CFD: usually asymptomatic (small disc=ganglia axons crowd, bulge out)   2. Pseudo: not due to incr. intracranial pressure (other cause, like optic nerve head drusen (ONHD)   3. Pallor=axonal loss (optic nerve compression)   4. 1 eye=ipsi pallor other eye=contra papilledema Cause: IPSI pituitary tumor/meningioma   5. ON: 70% have no papilledema (normal fundoscope exam): Clinical Triad: (1) low acuity, (2) color vision loss, (3) retro-ocular pain upon eye mvmt.   6. Hx: diabetes, coagulopathy-->thromboembolus leads to vision loss (ant. choroid, PComm, etc.) 
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        | Term 
 
        | Localization of VF defects: 1. Behind/in front of Optic Chiasm? 2. Which side? 3. Congruence?  |  | Definition 
 
        | 1. Heteronymous: before optic chiasm 2. VF=contralateral processing  3. PCA supplies occipital lobe,  MCA does nearby, collateral flow=macular sparing   PCA occlusion=homonymous visual deficits (+ macular sparing often), weird shapes=MCA/stuff anterior to chiasm  |  | 
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        | Term 
 
        | Cochlear dysfunctions:   1. Conductive vs. Sensorineural hearing loss 2. Usher Syndrome  |  | Definition 
 
        | 1. Conductive: middle ear conduction issue Dx: temporal bone conduction 
 Sensorineural: problem w/ transduction of signal (neural) Hereditary: polygenic, high-f sound loss most common   Usher:  1. severe, EARLY hearing loss  2. Assoc. Retinitis pigmentosa (due to shared gene for cytoskeleton constructing) 3. Balance issues can manifest also  |  | 
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        | Term 
 
        | Vestibular tests:   1. Optokinetic vs. vestibular nystagmus 2. Caloric testing (cold vs. hot water in ear)  |  | Definition 
 
        | 1. Optokinetic=fast phase opposite direction of object movement (object moves R=L-beating nystagmus)  Vestibular=fast in SAME direction as head rotation   2. COWS: cold=opposite, warm=same (Ex: inject cold water into R ear-->L-beating nystagmus...equiv. to rotating head to L or object in VF moving R)   Sumary: OPPOSITE: cold, optokinetic SAME: warm, vestibular/VOR  |  | 
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        | Term 
 
        | Effect of booze vs. deuterium on nystagmus:   1. Effect of each on endolymph 2. Position-dependent nystagmus: which direction (given one ear down/one up)?  |  | Definition 
 
        | 1. EtOH-->decr. endolymph density Deuterim (heavy water) increases density  EtOH: R ear down: (1) R-nystagmus (into pillow) cupula is less dense than endolymph (absorbs first), (2) L-beating (endolymph absorbs'latent effect)   deuterium=opposite  |  | 
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        | Term 
 
        | DDX for vestibulopathies: hyper/hypoactive  1. BPPV 2. Vertebro-basilar Insufficiency 3. Peri-Lymphatic Fistula 4. Meniere's Disease 5. Vestibular Neuritis 6. Cerebello-pontine angle mass  7. Rx-Induced Ototoxicity  |  | Definition 
 
        |  Hyper=nystagmus toward, hypo=away HYPERS:  1. BPPV: seconds, dental work 3. Peri: minutes, valsalva/airplanes/swimming 4. Meniere: chronic, acute recurrences, tinnitus, ear pressure, Tumarkin's crises     HYPO:  2. Vert-Bas: recurrent, brief, complete hearing loss 5. Neuritis: recent/on-going infection  6. C-pontine: hyperventilation, decr. hearing    BOTH (no nystagmus): 7. Ototox: imbalance, unable to focus while moving, no vertigo or hearing loss  
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        | Term 
 
        | MOTOR disease localization, EXAMPLES:
   1. UMN 2. LMN/peripheral NS
 3. Myopathic  |  | Definition 
 
        | ALL: weakness 1. UMN: incr. reflexes & tone (no atrophy, fascic.) Stroke, etc.   2. LMN: decr. reflexes/tone, atrophy, fasciculations, interrupted/decr. MU recruitment pattern
 Spinal: ALS, Spinal Muscular atrophy, Polio root: disc herniation, rhizotomy nerve: Pancoast's tumor, diabetes, Carpal tunnel NMJ: MG, Lambert-Eaton, botulism   3. No fasciculations, MU recruitment pattern=normal/increased, MUP=small polyphasic Myositis: (histo) clusters of myo-satellite cell nuclei (proliferating compensation) 
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        | Term 
 
        | Cerebellar disorders:   1. Common sx |  | Definition 
 
        | IPSIlateral manifestation of sx... Sx: Titubation (posture problems) Scanning Dysarthria (deliberate pronunciation) Hyperactive VOR Dysdiadochokinesia (sup/pronation difficulty) Appendicular ataxia Gait imbalance/dysequilibrium Decreased spinal reflexes, muscle tone  
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        | Term 
 
        | BG disorders, 2 pathways, etc.   1. Common sx 2. Examples 3. The 2 pathways & assoc. dyskinesia type  |  | Definition 
 
        | 2 paths: Direct: facilitates movement (lesion=hypokinesia) Parts: Striatum (GABA, SubP; D1/SNc), GPi/SNr, Thalamus  Example: Parkinson's (Tx: DA-replacement)    Indirect: inhibits (lesion-->HYPERkinesia)  Parts: (above)+ STN (Glu/+), GPe, (SNc/D2 (-)) Examples: Hemiballismus, Huntington's
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        | Term 
 | Definition 
 
        | Cause: cerebral peduncle lesion (common: PCA)   Sx:  1. CONTRA lower face-->body paralysis (CST) 2. IPSI occulomotor nerve palsy (CN III emerges in interpeduncular fossa)  |  | 
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        | Term 
 
        | Medullary Syndromes comparison:   1. Medial 2. Lateral (of Wallenberg) |  | Definition 
 
        | Medial: Sx:  1. CONTRA hemiparesis (body) 2. IPSI tongue paralysis & atrophy (CN XII) 3. CONTRA loss of vib/discrim. touch (Med Lemn)   Lateral: Sx: 1. CONTRA loss of pain/temp. (STT/ALS) 2. IPSI dysphagia/dysarthria (CN X, XI/Ambiguus) 3. IPSI loss of pain/temp. (face) (spinal Nuc. of V) 4. Vertigo, nausea, nystagmus (Vestibular nuclei)  5. Horner's syndrome (loss of SNS desc. fibers to eyes=ptosis, anhidrosis, miosis) 
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        |  | 
        
        | Term 
 | Definition 
 
        | Cause: spinal cord hemisection Sx: 1. CONTRA loss of pain/temp. (STT/ALS) 2. IPSI fine touch loss (DCML)
 3. LMN lesion=atrophy, fasciculations (spastic paralysis), decr. reflexes & tone) 4. IPSI Babinski dysreflexia/+(CST)  |  | 
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        | Term 
 
        | Posturing syndromes: sx, cause, contrast, etc.
   1. Decorticate 2. Cederebrate  |  | Definition 
 
        | Decorticate: Cause: lesion cutting cortex off from Red Nuc. (lesion is rostral to Red Nuc.) Intact: RuST, Cerebellum (from Dentate/lateral)  NOT: CST 
 Sx: LOWER limbs=extended, UPPER=flexed (mummy-style)   Decerebrate: WORSE Cause: transection @ level btw. colliculi pairs (S/Inf) Caudal to the Red Nuc. Sx: LOWER & UPPER limbs: extended/adducted Why: removal of cortex excitation to LReST (which is inhibitory)=unopposed excitatory MReST 
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        | Term 
 | Definition 
 
        | Cause: unilateral lesion to Red Nucleus (MB) Sx: 1. IPSI occulomotor palsy (eye dev. lateral; unopposed CN VI) 2. IPSI miosis (pupil dilated; unopposed SNS), ptosis 3.  Usually occurs in conjunction w/ CST lesion (see Weber Syndrome, Medial medullary syndrome)
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        | Term 
 | Definition 
 
        | Cause: bilateral corticobulbar tract lesion (passes thru genu of IC, synapses in RF/motor nuclei of BS)   Sx: similar to Lateral Medullary Syndrome w/o the ALS system assoc. deficits 1. Dysphagia/dysarthria (X, XI-Nuc. Ambiguus) 2. Tongue paralysis 3. Loss of emotional control (unique)  |  | 
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