Term
| most common inherited peripheral neuropathy in the world |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| chronic demyelination/remyelination cycles |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| both myelopathy and axonpathy components |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| onion bulb formations found in nerve root |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| demyelination and degeneration moves inward -> signs in symptoms in upper extremity first |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| pes cavus (high arches) and pied en griffe (hammertoes) |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
| sensory ataxia (loss of propioception); with slapping feet and frequent ankle sprains |
|
Definition
| charcot-marie-tooth syndrome |
|
|
Term
|
Definition
|
|
Term
| mechanical compression of the 5th CN root, usually by the superior cerebellar artery |
|
Definition
|
|
Term
| unilateral electric-shock like, stabbing facial pain; very rarely bilateral |
|
Definition
|
|
Term
| most common acquired demyelinating polyneuropathy |
|
Definition
|
|
Term
| most common cause of acute generalized weakness |
|
Definition
|
|
Term
| normally preceded by an intestinal or upper respiratory tract infection |
|
Definition
|
|
Term
| inflammatory cell infiltration and myelin degeneration with complement deposited on the outside of the myelinated fiber |
|
Definition
|
|
Term
| rapidly progressing weakness (<4 wks.); weakness progresses upwards from legs; autonomic dysfunction in 65% of cases |
|
Definition
|
|
Term
| tumors arising from schwann cells that surround peripheral nerve fibers |
|
Definition
|
|
Term
| increased incidence with those neurofibromatosis type-2 |
|
Definition
|
|
Term
| 8th CN is the most common site for tumor development, followed by 5th CN |
|
Definition
|
|
Term
| benign tumor with mass effects |
|
Definition
|
|
Term
| most common form of severe chronic motor disability in children |
|
Definition
|
|
Term
| major risk factors include preterm birth and maternal or fetal infections |
|
Definition
|
|
Term
| major motor abnormalities include spasticity in 80% of cases, intellectual impairment in 66% of cases, and seizures in 50% of cases |
|
Definition
|
|
Term
| dysraphism (defect in the closure of midline structures) that causes the tonsils of the cerebellum to be displaced within the foramen magnum |
|
Definition
|
|
Term
| stongly correlated with syringomelia |
|
Definition
| chiari malformation type I |
|
|
Term
| most common malformation of the posterior cranial fossa |
|
Definition
| chiari malformation type II |
|
|
Term
| dysraphism almost always accompanied with hydrocephalus and myelomeningocele |
|
Definition
| chiari malformation type II |
|
|
Term
| dysraphism that features agenesis of the cerebellar vermis, cystic dilation of the fourth ventricle and enlargement of the posterior cranial fossa |
|
Definition
|
|
Term
| associated with lack of folic acid during pregnancy |
|
Definition
|
|
Term
| most common neural tube defect |
|
Definition
|
|
Term
| due to obstruction of the cerebral aqueduct secondary to masses or viral infections, or structural abnormalities such as the chiari malformation or dandy-walker syndrome |
|
Definition
| hydrocephalus in the child |
|
|
Term
| port-wine stain develops in the ophthalmic division of the trigeminal nerve; seizures develop in first year of life; mental retardation and learning disabilities develop in 50% of cases |
|
Definition
|
|
Term
| disease associated with long arm of chromosome 21 (close to the gene for down syndrome) |
|
Definition
|
|
Term
| pathology includes diffuse atrophy of the cerebral cortex, ventricular enlargement, sulcal enlargement, and hippocampal atrophy |
|
Definition
|
|
Term
| cortical atrophy most marked in the parietal lobe |
|
Definition
|
|
Term
| neuritic plaques (or senile plagues) contain A-beta amyloid |
|
Definition
|
|
Term
| neurofibrillary tangles contain hyperphosphorylated tau proteins |
|
Definition
|
|
Term
| b-amyloid gene encodes a large protein known as the amyloid precursor protein |
|
Definition
|
|
Term
| most common form of progressive motor neuron disease |
|
Definition
| amyotrophic lateral sclerosis |
|
|
Term
| pathogenesis may involve failure of astrocytes to remove glutamate from the synaptic cleft, leading to excitotoxicity, oxidative stress, and eventual cell death |
|
Definition
| amyotrophic lateral sclerosis |
|
|
Term
| involves death of peripheral motor neurons from the ventral horn and brainstem nuclei, as well as the bulbospinal and corticospinal neurons in the brainstem and cerebral cortex, respectively |
|
Definition
| amyotrophic lateral sclerosis |
|
|
Term
| denervation of skeletal muscle results in atrophy, although autonomic functions persist, and death usually comes from respiratory failure |
|
Definition
| amyotrophic lateral sclerosis |
|
|
Term
| progressive, hereditary spinocerebellar ataxia that involves an autosomal recessive mutation |
|
Definition
|
|
Term
| most prevalent form of hereditary ataxia |
|
Definition
|
|
Term
| mapped to chromosome 9q13-q21.1 |
|
Definition
|
|
Term
| associated with frataxin gene, which consists of expanded GAA triplet repeats |
|
Definition
|
|
Term
| progressive myelin loss from the spinocerebellar tracts> posterior columns> corticospinal tracts |
|
Definition
|
|
Term
| autosomal dominant ataxia |
|
Definition
|
|
Term
| ataxia in which 10% have diabetes, and 10% reduced glucose tolerance |
|
Definition
|
|
Term
| associated with whiplash injury and chiari type I malformation |
|
Definition
|
|
Term
| cape-like distribution of analgesia |
|
Definition
|
|
Term
| non-inflammatory demyelination of the pons secondary to rapid correction of a hyponatremic state or due to a hypernatremic state |
|
Definition
| central pontine myelinolysis |
|
|
Term
| demyelination of pons in which alcoholism is associated in more than half of cases |
|
Definition
| central pontine myelinolysis |
|
|
Term
| locked-in syndrome present; flaccid paralysis in all four limbs, inability to chew, swallow or speak, eye movements are spared |
|
Definition
| central pontine myelinolysis |
|
|
Term
|
Definition
| subacute combined degeneration |
|
|
Term
| malignant invasive tumor of the cerebellum |
|
Definition
|
|
Term
| neoplasms more common in females than males; seen in the 6th or 7th decade of life, rarely in children; established risk factor is radiation therapy; seizures most common complaint |
|
Definition
|
|
Term
| most common tumor of the fourth ventricle |
|
Definition
|
|
Term
| lucid interval in 50% of cases |
|
Definition
|
|
Term
|
Definition
| epidural or subdural hemorrhage |
|
|
Term
| 50% lose consciousness, 33% with lucid interval, unilateral pupil dilation and oculomotor palsy |
|
Definition
|
|
Term
| This is a neurocutaneous genetic disorder, and is autosomal dominant. |
|
Definition
|
|
Term
| This disorder is mapped to TSCI (chromosome 9q34)and TSC2 (chromosome 16p13). |
|
Definition
|
|
Term
| Presents w/ hypomelanotic macules or "ash leaf patches", sebaceous adenomas, shagreen patches, retinal lesions. |
|
Definition
|
|
Term
| This is a slowly progressive, degenerative disease of the substantia nigra. |
|
Definition
|
|
Term
| This is the second most common neurodegenerative disease and the most common familial neurodegenerative disease. |
|
Definition
|
|
Term
| Risk factors include positive family history, male gender, head injury, exposure to pesticides, consumption of well water, and rural living. |
|
Definition
|
|
Term
| This disease involves mutations w/ A-synuclein - SNCA gene, AD |
|
Definition
|
|
Term
| Pathology involves mild atrophy of the frontal lobes, loss of dopaminergic neurons in the substantia nigra, and Lewy bodies present in the remaining dopaminergic neurons of the substantia nigra. |
|
Definition
|
|
Term
| Cardinal manifestations include a 4-6 Hz tremor, rigidity, bradykinesia, decreased blink reflex, stooped posture, shuffling and fenistating gaits. |
|
Definition
|
|
Term
| This is a slowly progressive, autosomal dominant degenerative disease of the basal ganglia w/ a high penetrance. |
|
Definition
|
|
Term
| Typical onset is 35-45 yrs. Gene for protein "huntington" is located on chromosome 4. |
|
Definition
|
|
Term
| Involves an unstable polyglutamine (CAG) repeats; pathologic expression begins w/ 40 or more repeats. |
|
Definition
|
|
Term
| Unrelenting progression of the disease can last 15-20 yrs. Widespread cerebral atrophy w/ significant involvement of the basal ganglia and caudate nucleus. |
|
Definition
|
|
Term
| Increased ventricular volume w/out any increase of lumbar CSF pressure. |
|
Definition
| Normal Pressure Hydrocephalus |
|
|
Term
| Risk factors include stroke, head injury, meningitis, brain tumors, aterial hypertension, diabetes mellitus. |
|
Definition
| Normal pressure hydrocephalus |
|
|
Term
| Slowly progressing gait disorder. Impaired mental function (apathy, dullness, memory loss), sphincteric incontinence. |
|
Definition
| Normal pressure hydrocephalus. |
|
|
Term
| This is a non-lethal neurobehavioral disorder involving D2 receptors in the ventral portion of the corpus striatum |
|
Definition
|
|
Term
| This is the most common tic disorder |
|
Definition
|
|
Term
| Common comorbidities include OCD, ADHD, and poor impulse control |
|
Definition
|
|
Term
| Inflammatory demyelinating disorder of heterogeneous origin that is the most common cause of neurologic presentation in young adults. |
|
Definition
|
|
Term
| Characteristic triad includes inflammation, demyelination, gliosis. |
|
Definition
|
|
Term
| Characteristically affects young women, more frequent in higher socio-economic groups, associated with temperate climates. |
|
Definition
|
|
Term
| Plaques are most common at angles of lateral ventricles or centrum semiovale. |
|
Definition
|
|
Term
| Presents w/ sensory loss, optic neuritis, weakness, paresthesias, oculomotor dysfunction, limb weakness, ataxic gait and other cerebellar signs, intranuclear ophthalmoplegia |
|
Definition
|
|
Term
| Treatment involves slowing the disease progression, reducing frequency of relapses, symptom relief. May utilize prednisone. |
|
Definition
|
|
Term
| Direct effects of tihs include cerebellar (vermal) atrophy, truncal ataxia, unsteady gait, nystagmus, loss of purkinje and granule cells |
|
Definition
|
|
Term
| Deficiency can cause Wernicke's encephalopathy (gaze palsies, ataxia, confusion) and Korsakoff's syndrome (memory difficulties and confabulation). |
|
Definition
|
|
Term
| Presents w/ cardiopathy (peripheral vasodilation, high output cardiac failure, peripheral edema),peripheral neuropathy, encephalopathy |
|
Definition
|
|
Term
| Alcoholism is the most common cause; may also be associated with thiamine deficiency, hyperemesis, starvation, renal dialysis, cancer |
|
Definition
| Wernicke-Kosakoff syndrome |
|
|
Term
| Pathology shows lesions in the paraventricular regions of the third ventricle (mamillary bodies) and cerebral aqueduct |
|
Definition
|
|
Term
| Presents w/ nystagmus, abducens or horizontal gaze palsy, gait ataxia, mental confusion |
|
Definition
|
|
Term
| Presents w/ confabulation, learning and memory deficits |
|
Definition
|
|
Term
| Preferential location is cerebral hemispheres. Account for 80% of adult primary brain tumors. Onset is during the 4-6th decade of life. Assocaited w/ mutation of chromosome 17, which leads to an inactivation of p53 and overexpression of PDGF-A |
|
Definition
|
|
Term
| Presents w/ seizures, headaches, focal neurologic sighs related to location of the tumor. |
|
Definition
|
|
Term
| A glial cell tumor, highly infiltrative neoplasm, believed to be derived from oligodendrocytes. |
|
Definition
|
|
Term
| Most frequently occur in the cerebral hemispheres during the 4-5 decade of life. Most frequently occur in the frontotemporal region. |
|
Definition
|
|
Term
| Intertumor calcifications are common, termed "brainstones" |
|
Definition
|
|
Term
| Signs and symptoms include seizures, headaches, increased ICP, can present initially w/ intracerebral hemorrhage. |
|
Definition
|
|
Term
| treatment for cerebral palsy |
|
Definition
| botulinum toxin, antispasmodics for severe spasticity, anticonvulsants, surgical rhizotomies for spasicity if required |
|
|
Term
|
Definition
| premature closure of sagittal suture (a form of craniosynostosis) |
|
|
Term
|
Definition
| premature closure of the coronal suture (a form of craniosynostosis) |
|
|
Term
|
Definition
| premature closure of the lambdoid suture (a form of craniosynostosis) |
|
|
Term
| premature closure of the cranial sutures |
|
Definition
|
|
Term
| treatment options for alzheimer dementia |
|
Definition
| cholinesterase inhibitors show mild efficacy in the early stages of the disease; Anti-oxidants can have a very mild influence on the disease; anti-inflammatory drugs and statins are in the process of being tested; concomitant depression can be treated with SSRIs; concomitant seizures should be treated with anti-convulsants |
|
|
Term
| treatment options for parkinson's disease |
|
Definition
* Goal is to maintain function and quality of life
* Classes of pharmaceutical treatment:
o Levodopa preparations
o Dopamine agonists
* Surgical treatment: pallidotomy and thalmotomy
* Neurotransplantation |
|
|
Term
| frontotemporal dementia differential from alzheimer dementia |
|
Definition
| not as much initial memory loss |
|
|
Term
| a rare form of dementia that features visual hallucinations, parkinsonism, fluctuating alertness and falls clinically and that is characterized neuropathologically by Lewy bodies throughout the cerebral cortex, amygdala, and substantia nigra |
|
Definition
|
|
Term
| one of the most frequent of the rare causes of dementia (10-15% of all dementias); unlike alzheimer dementia, a higher male to female ratio |
|
Definition
|
|
Term
| presentation of normal-pressure hydrocephalus |
|
Definition
normal CSF pressure
Triad of clinical findings:
* Slowly progressing gait disorder (unsteadiness, impaired balance, falls)
o occurs in 90% of patients
* Impaired mental functions (apathy, dullness, inattention, memory loss)
o occurs in 80% of patients
* Sphincteric incontinence (urgency and frequency leading to incontinence)
o occurs in 45-90% of patients |
|
|
Term
| treatment options for tourette's syndrome |
|
Definition
| dopamine blockers (antipsychotics) |
|
|
Term
| lower (2/3) glucose levels and raised protein levels in CSF |
|
Definition
|
|
Term
| treatment options for bacterial meningitis |
|
Definition
# Medical emergency
# First priority is sustaining blood pressure and treating for septic shock
# Empiric antibiotic choice is premium, and is begun while awaiting diagnostic testing
# Specific antibiotic therapy based on test results |
|
|
Term
| differentiation of viral from bacterial meningitis |
|
Definition
| no glucose change, protein may still be elevated; no nuchal rigidity |
|
|
Term
| bacterial or viral infection of the brain parenchyma; if untreated, has a 50-70% mortality rate, and 100% have neurological sequelae |
|
Definition
|
|
Term
| pathogenesis of prion disease |
|
Definition
* PrPC is the normal form of a membrane-bound protein (PrP) of unknown function
* Conformation change of PrPC yields PrPSc, which accumulates in the cell membranes and lysosomes of neurons eventually resulting in cell death
* PrPSc can bind to PrPC and convert it into additional PrPSc thus it is self perpetrating |
|
|
Term
| treatment options for multiple sclerosis |
|
Definition
* Goals
o Slowing the disease progression
o Reduce frequency of relapses
o Symptom relief
* Prednisone
* Intravenous methylprednisolone
* Interferon Beta-1B
* Interferon Beta-1A
* Glatiramer acetate
* Baclofen for spasticity |
|
|
Term
| a metabolic toxification of the brain due to portosystemic shunting of blood secondary to hepatic resistance such as seen in cirrhosis |
|
Definition
|
|
Term
| pathology includes abnormal astrocytes in the brain that are unable to convert ammonia to glutamine for removal from the brain, leading to increase in ammonia levels in neurons |
|
Definition
|
|
Term
| one progressive presentation is asterixis (intermittent muscle contraction when attempting a fixed position) |
|
Definition
|
|
Term
| an autosomal recessive disorders resulting in defective metabolism of copper and copper toxicity |
|
Definition
|
|
Term
| a disease with increased rates in areas of consanguinity |
|
Definition
|
|
Term
| disease involves mutation of ATP7B gene, a copper-transporting ATPase |
|
Definition
|
|
Term
| activated trigeminovascular system leads to activation of sphenopalatine ganglion and symptom complex; male to female ratio of 5:1 |
|
Definition
|
|
Term
| treatment options for acute effects of cluster headache |
|
Definition
Acute effects
* Oxygen inhalation
* Sumatriptan
* IV dihydroergotamine
* Topical lidocaine
* Butorphanol
* Capsaicin applied nasally |
|
|
Term
| headache type affecting women more than men, with a strong familial correlation, and more common among lower classes |
|
Definition
|
|
Term
| classifications of hydrocephalus |
|
Definition
Classification:
* Obstructive hydrocephalus
Common causes: Tumors
* Communicating hydrocephalus
Common causes: Meningeal inflammation secondary to tumor cells or hemorrhage
* Hydrocephalus ex vacuo
Common causes: brain atrophy due to normal aging or neurodegenerative diseases |
|
|
Term
| this atherosclerotic symptom leads to 50% of ischemic strokes |
|
Definition
|
|
Term
| axonal degeneration due to a heavy metal used to treat tumors; and involving paresthesias in the extremities, hearing loss, with pain sensation intact |
|
Definition
|
|
Term
| a distal symmetrical sensorineural neuropathy affecting sensory, motor and autonomic fibers |
|
Definition
|
|
Term
| pathogenesis of diabetic neuropathy |
|
Definition
* Abnormal activity in at least four pathways are thought to underlie the genesis of diabetic neuropathy (see Brownlee, 2001 for a good review of this information)
* Increased polyol pathway flux
* Increased intracellular formation of advanced Glycation end-products
* Activation of protein kinase C elevating the expression of proinflammatory molecules
* Increased flux in the hexoamine pathway
* All of these pathways ultimately result in vascular insufficiency, the elevation of free radical production and the loss of free radical scavengers |
|
|
Term
| natural history of macular degeneration |
|
Definition
* The most common cause of untreatable blindness in the elderly
* Prevalence of 0.05% before age 50 and 11.8% after age 80.
* Two forms: nonexudative (dry) and exudative (wet)
* Drusen: hyaline nodules deposited in Bruch’s membrane
* Sub retinal neovascular changes |
|
|
