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 brain malformation can be associated with an occipital headache and obstructive sleep apnea
What is a Chiari I malformation?
Jerky movements during sleep in a young infant that stop when awoken are characteristic of this disorder
What is benign neonatal sleep myoclonus?
Nonepileptic seizures, weakness, movement disorders, sensory and visual disturbances are examples of clinical features that can be representative of this disorder
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-
-Benign paroxysmal vertigo
-Benign paroxysmal torticollis
-Cyclic vomiting syndrome
-Abdominal migraine
Morning jerks which can be precipitated by sleep deprivation, are characteristic of this disorder
What is juvenile myoclonic epilepsy?
Young infants with sudden sustained downward eye deviation ("setting sun sign") lasting seconds to minutes, and followed by quick correction to primary gaze, is characteristic of this rare disorder
What is paroxysmal tonic downgaze of infancy?
These cranial nerves pass through the cavernous sinus
What are the oculomotor, trochlear, ophthalmic (V1), maxillary (V2), and abducens nerves?
[III, IV, V1/V2, VI]
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?
Type 1: CACNA1A gene
Type 2: ATP1A2 gene
Type 3: SCN1A gene
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?
This muscle disease which causes episodic weakness, can be precipitated by cold exposure, rest after exercise, or fasting
What is hyperkalemic periodic paralysis?
Note: Hypokalemic PP can be precipitated by rest after vigorous exercise, stress, or a high-carbohydrate meal
This structure is responsible for maintenance of the circadian rhythm
What is the suprachiasmatic nucleus?
A leptomeningeal vascular malformation can be a finding associated with this genetic disorder if the typical facial lesion is present
What is Sturge-Weber syndrome?
Sudden awakening with screaming, agitation, facial flushing, sweating in a toddler is suggestive of this childhood parasomnia associated with NREM sleep
What is sleep (night) terrors?
Fine motor movements that are worsened with goal-directed activity, such as drawing a spiral, is characterized as
What is an action tremor?
Neuroblastoma is identified in about 50% of cases of this acquired immune-mediated disorder
What is opsoclonus-myoclonus-ataxia syndrome?
This protein is used in the passage of glucose through the BBB
Bonus: This protein is reduced due to mutations in this gene
What is glucose transporter isotype 1 (GLUT-1) protein?
Bonus: What is the SLC2A1 gene?
Notes: GLUT1 deficiency syndrome is characterized by a progressive neurologic deterioration w/ epilepsy, movement disorders, intellectual disability; to help slow neurodevelopmental decline, tx with KTG diet therapy is important
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
Name the trigeminal autonomic cephalalgias
What are-
-Cluster headache
-Paroxysmal hemicrania
-Short lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)
-Short lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA)
-Hemicrania continua
Motor impersistence, characterized by a typical grip, is often noticed with this movement disorder
What is Sydenham chorea?
Seizures and acquired language dysfunction is typical for this disorder
What is Landau-Kleffner syndrome (acquired epileptic aphasia)?