Where things are...
This peripheral nerve provides sensory innervation to the lateral surface of the upper arm approximately over the deltoid muscle
What is the axillary nerve?
A duplication within the PMP22 gene on chromosome 17 causes this disorder
What is Charcot Marie Tooth disease (type IA)?
Note: Deletion in PMP22 causes HNPP
This is the most common treatment for obstructive sleep apnea
What is adenotonsillectomy?
Notes: Eliminates respiratory abnormalities in sleep in 79% of patients; improves sleep quality, school performance and symptoms of ADHD
Jerky movements during sleep in a young infant that stop when awoken are characteristic of this disorder
What is benign neonatal sleep myoclonus?
Name the West Syndrome triad
What are infantile spasms, developmental arrest and hypsarrhythmia?
This structure is responsible for conveying sensations of pain and temperature stimuli to the brain
What is the spinothalamic tract?
Cardiac rhabdomyomas are associated with this genetic condition
What is Tuberous sclerosis?
Notes: AD; mutations in TSC1 or TSC2 genes; characterized by seizures, ID, calcifications, tumors in different organs, cutaneous lesions
Name 2 migraine equivalent syndromes (early migraine variants in children)
What is-
-Cyclic vomiting syndrome/abdominal migraine/benign paroxysmal vertigo/benign paroxysmal torticollis
Fun fact: Infantile colic!
Morning jerks which can be precipitated by sleep deprivation, are characteristic of this disorder
What is juvenile myoclonic epilepsy?
Name the condition associated with sudden, painless monocular vision loss, associated with optic disc swelling and eventual optic atrophy
What is anterior ischemic optic neuropathy?
Note: Due to idiopathic infarct of the anterior part of the optic nerve, likely atherosclerotic in etiology but not associated w/CV risk factors; 40% of patients will have AION of the other eye within 2-4 years
This protein is used in the passage of glucose through the BBB
What is glucose transporter isotype 1 (GLUT-1) protein?
This gene is implicated in Friedreich ataxia
What is Frataxin?
Notes: FA caused by GAA repeats in the gene FTX. Characterized by ataxia, decreased DTRs, posterior column dysfunction, dysarthria, nystagmus,
This headache disorder is characterized by unilateral hemiparesis lasting hours and migraine with aura
What is familial hemiplegic migraine?
Notes: Channelopathy, autosomal dominant; defect in CACNA1A gene (chromosome 19) encoding a P/Q type calcium channel; mutations can also cause episodic ataxia 2, spinocerebellar ataxia type 6, childhood absence epilepsy
Sudden onset repetitive, twisting movements of arms and legs triggered by sudden rapid voluntary movement, sometimes with a preceding sensation, is characteristic of this disorder
What is paroxysmal kinesigenic dyskinesia?
Notes: Primary- sporadic or inherited; secondary- MS, CP, CVD, trauma, metabolic abnormalities; symptomatic management - phenytoin, carbamazepine, valproate, primidone, diazepam, phenobarbital
This disorder characterized by frequent, short attacks of muscle weakness provoked by rest following exercise, cold exposure, stress and oral potassium intake, is associated with this membrane channel
What is the sodium channel?
Note: Periodic hyperkalemic paralysis is a disorder of muscle membrane excitability from mutation in the gene coding for the sodium inactivation gate -- inactivation of sodium channels prevents action potentials leading to muscle weakness or paralysis.
This structure is responsible for maintenance of the circadian rhythm
What is the suprachiasmatic nucleus?
This mitochondrial disorder is associated with developmental delay/psychomotor regression, ataxia, dystonia, ophthalmoplegia, seizures, lactic acidosis and bilateral, symmetric necrotizing lesions in the brain
What is Leigh disease?
What is acute necrotizing encephalomyelopathy?
Notes: AR or X linked; presents in infancy or early childhood and carries a poor prognosis
REM sleep behavioral disorder can be associated with this neurodegenerative disorder
What is-
Parkinson's disease/ multisystem atrophy/ Lewy Body Dementia?
Notes: Alpha-synucleopathies; loss of REM atonia on PSG, complex motor activity, acting out dreams - punching, kicking, running
Multiple seizure types, developmental delay, and slow spike-wave discharges on EEG characterize this disorder
What is Lennox Gastaut syndrome?
This medication is FDA approved for treatment of irritability in children with autism
What is risperidone? (used most commonly*)
What is aripiprazole?
Name 2 structures the intervertebral foramina serve as openings for
What are the...
Anterior spinal nerve roots
Posterior spinal nerve roots
Dorsal root ganglions
Spinal arteries and veins
Name 3 genetic mutations that are associated with early-onset Alzheimer's disease
What are presenilin 1 (chromosome 14), presenilin 2 (chromosome 1) and amyloid precursor protein (APP; chromosome 21)?
Notes: greatest risk factor for late onset AD: age and APOE4 allele (APOE2 allele associated with lower risk)
Recurrent, brief attacks of sharp, stabbing unilateral pain around the eye, eye redness and tearing are characteristic of this headache disorder
What is SUNCT (short lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing)?
Notes: Trigeminal autonomic cephalgias; refractory; lamotrigine, gabapentin, topiramate
Fencer's posture (arm abduction, external rotation, flexion at elbow) localizes to this area of the brain in this epilepsy disorder
What is the supplementary motor area (frontal lobe)?
Note: seen contralateral to side of epileptiform activity
Seizures and acquired language dysfunction is typical for this disorder
What is Landau-Kleffner syndrome (acquired epileptic aphasia)?