General Flashcards
Ramsay Hunt Syndrome
- caused by reactivation of VZV from the geniculate ganglion
- characterized by severe ear pain, ipsilateral facial nerve palsy, and herpetic rash of the external auditory meatus
Parkinson’s disease
- degeneration of dopaminergic neurons in substantia nigra pars compacta
- Lewy bodies: neuronal intracytoplasmic inclusions surrounded by halo
- alpha-synucleiopathy
Targets for DBS
- subthalamic nucleus
- globus pallidus interna
- ventral intermediate nucleus is especially useful for tremor
PSP
- tau-opathy
- gait & imbalance are prominent features; falling occurs 1.5 years after symptoms onset (unlike parkinson’s, when it occurs years after onset)
- vertical gaze abnormalities (restricted upward gaze making going down stairs difficult); can be overcome with oculocephalic maneuver
- square wave jerk and impaired optokinetic nystagmus
- MRI with hummingbird sign (atrophy of midbrain)
- PD features are less asymmetric and not levodopa responsive
- retrocollis: involuntary neck extension is present (vs antecollis in MSA)
- no autonomic features/ataxia (unlike MSA)
MSA
- alpha synnucleinopathy
- autonomic dysfunction: orthostatic hypotension w/o compensatory increase in HR; urinary incontinence, and impotence
- laryngeal dystonia –> potentially fatal
- 3 subtypes: signif autonomic dysfunction, signif parkinsonism, and signif cerebellar ataxia
- MRI with hyperintense rim around putamen & “hot cross bun sign” in pons
- poor response to levodopa
- antecollis (involuntary neck flexion)
Corticobasal Syndrome
- PD plus syndrome
- focal limb rigidity and/or dystonia, cortical myoclonus, and cortical sensory loss (asterognosis, agraphesthesia, and loss of two-point discrimination)
- other fx: frontal cognitive dysfunction, apraxia, alien limb
Secondary causes of Parkinson’s
- post-encephalitis (WNV, influenza)
- manganese toxicity, CO toxicity
- vascular (affects LE > UE); lacunes in BG
- drug-induced (typical antipsychotics)
- NPH and other hydrocephalus
Rubral tremor
- aka Holmes tremor
- low-frequency tremor present at rest, with posture, and with action
- lesions in dentate nucleus and superior cerebellar peduncle
- often seen in MS
Essential tremor treatments
- propranolol (Beta blocker)
- primidone (anticonvulsant which is converted into phenobarb and PEMA)
- 2nd line: atenolol, topiramate, gabapentin, benzo (clonazepam)
Tourette’s Syndrome
- at least one motor and one phonic tic at some time during illness (though not necessarily at the same time) before age 18
- comorbidities: OCD, ADHD, anxiety, depression
- dopaminergic hyperstimulation of ventral striatum + limbic system
- tx: haloperidol, pimozide, clonidine, habit reversal
Wilson’s Disease
- autosomal recessive dx of copper metabolism
- mutation in gene encoding copper transporting P-type ATPase (ATP7B) on chromosome 13 –> inability to excrete copper from liver into bile –> copper accumulation
- neurologic (PD, dystonia, tremor, ataxia), hepatic, and psychiatric features
- decreased serum ceroloplasmin and increased urinary excretion of copper
- MRI with T2 hyperintensities in caudate and putamen with sparing of red nucleus –> double panda sign
- tx: d-penicillamine, zinc supplementation, low copper diet
Lance-adams syndrome
- results from hypoxic-ischemic injury “cortical” myoclonus
- action myoclonus; gait may be affected with leg involvement
- may not be evident until a few months after injury
- Tx: clonazepam, piracetam, LEV, VPA
Huntington’s
- autosomal dominant, trinucleotide expansion of CAG on chromosome 4
- chorea, gait instability, dystonia, neuropsych
- motor impersistence (inability to maintain tongue protrusion)
- impaired saccades and pursuits, insuppressible head movements during eye movements
- MRI: caudate and putamen atrophy
- no cure; symptomatic tx with antidopaminergic (atypical antipsychotics and tetrabenazine)
Neuro-acanthocytosis
- mixed movement dx with chorea and dystonia
- acanthocytes (spiculated RBC) present in blood smear
- chorea-ancanthocytosis, Mcleod’s syndrome, abetalipoprotein are examples
Chorea-acanthocytosis
- orolingual dystonia (tongue-protrusion dystonia particularly while eating), self mutilating behavior, cognitive decline with dementia, dysarthria, opthalmoplegia, PD, seizures, and behavioral problems
- chorea and athetosis (slow form of chorea) also occur
- autosommal recessive; VPS13A gene Chr 9 (chorein protein)
Lesch-Nyhan
x-linked recessive from mutation in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) –> abnormal purine metabolism –> hyperuricemia
- self mutilation
- nephrolithiasis, neuropsych sx, chorea, athetosis, and rigidity occur
Hemiballism
- lesions in contralateral STN
- also occur with contralateral parietal or thalamic lesions
- often responds to antidopaminergic therapy
Tardive Dyskinesia
- more common with typical antipsychotics (haloperidol, fluphenazine b/c of > D2 antagonism)
- can also occur with Reglan (metoclopramide)
- also associated atypical antipsychotics ie risperidone (clozapine and quetiapine least likely to cause it)
- oro-bucco-lingual movements, akathisia (inner restlessness), dystonia (usu neck), tremor, parkinsonism
- tx: clonazepam and tetrabenazine (dopamine-depleting agent)
Primary generalized dystonia
- autosomal dominant
- mutation in torsin A gene, Chr 9 (DYT1)
- generally starts in one limb, then spreads to trunk and other limbs
- poor response to levodopa; tx = anticholinergics, benzodiapines, and DBS of GpInterna
Segawa’s Syndrome (Dopa-responsive dystonia)
- more common in females
- diurnal variation (worse in afternoon and evening)
- mild parkinsonism present on exam
- typically presents in childhood
- response to low-dose levodopa
- MC form: autosomal dominant mutation in GCH1 on CHr 4 (involved in dopamine synthesis)
AEDs in breast milk
Valproate, phenobarbital, phenytoin, and carbamazepine are not excreted in breast milk to the extent of lamotrigine, gabapentin, levetiracetam, and topiramate
Physiologic Changes in Pregnancy
Some of the physiologic changes that may alter AED levels include major hormonal shifts, changes in body mass, increased renal blood flow, hepatic enzyme induction, decreased albumin levels, and decreased absorption
Hypercoagulability in pregnancy
- multiple hematologic changes occur –> hypercoag state
- Fibrin generation is increased & fibrinolytic activity is decreased.
- Levels of factors II, VII, VIII, and X are all increased. Protein S and acquired resistance to activated protein C also occur. Also elevation in D-dimer
- hypercoagulable state is most pronounced near the end of the third trimester and postpartum.
Reversible Cerebral Vasospasm Syndrome (RCVS)
- presents with a thunderclap headache
- pathophys: related to endothelial dysfunction –> hypertension and vasospasm
- ddx: SAH and CVT
- MRA shows vessel beading similar to that seen in vasculitis, but with a very different presentation.
- Tx: BP control, seizures (AED), antianalgesic (HA), and nimodipine