Features and inheritence of Charcot Marie Tooth?
Autosomal dominant
distal muscle wasting and weakness - thinner ankles
Sensorimotor neuropathy of peripheral nerves - develops in puberty
What is astereognosis? Lesions in which lobe may cause this?
the inability to identify an object by active touch of the hands without other sensory input, such as visual or sensory information. (astereoGNosis - no nose)
Parietal lobe
Dominant parietal lobe = bilateral astereognosis
Non-dominant = contralateral astersognosis
What is perseveration? It can be caused by lesions in which lobe?
Repetitive and involuntary continuation of a response in the absence of original stimulus
Frontal lobe
What is Acalculia? Lesions in which lobe can cause this?
Impairment in numerical and calculation abilities
Parietal lobe (dominant side - usually left)
Which part of the brain is associated with huntingtons + chorea in general?
Striatum (caudate nucleus) of the basal ganglia
What is hemiballism?
ipsilateral or contralateral side to lesion
A type of chorea caused by decreased activity in the subthalamic nucleus of the basal ganglia
Sx on contralateral side
What is Parinaud Syndrome?
Result of a lesion in the dorsal midrain.
Causes
1) vertical gaze palsy
2) Pupillary light-near dissociation (do not accommodate to light - Pseudo-Argyll Roberyson pupils)
3) Mild eyelid retraction
Palatal myoclonus is evidence of a lesion where
Olivary nucleus
What is Gerstmann’s syndrome? A lesion in which lobe is indicated?
Parietal lobe
1) agraphia/dysgraphia (difficulty with writing)
2) acalculia/dyscalculia (difficulty with mathematical tasks)
3) finger agnosia (inability to distinguish fingers on the hand)
4) left-right disorientation.
way to remember: men are stupid, cant read, write or distinguish fingers on hand
Alexia (inability to read) without agraphia (inability to write) =
Lesion at corpus callosum
MOA of triptans
Specific 5-HT1 agonist
First line medications (2) for restless legs
Pregabalin or gabapentin
Presentation of brocas vs wernickes aphasia
Brocas - non-fluent speech, normal comprehension, and impaired repetition
Wernickes - speech fluent, comprehension abnormal, repetition impaired
MS pt with bladder dysfunction - investigation?
US bladder to assess emptying
First and second line for essential tremor
first line = propranolol
second line = primidone
What is myotonic dystrophy? Features?
Autosomal dominant myopathy -presents around 20-30 years old
Features
- myotonic facies (long, haggard appearance)
- frontal balding
- bilateral ptosis
- cataracts
- dysarthria
Facial droop +/- forehead sparing causes
No forehead sparing = LMN - bells/ ramsey hunt
Forehead sparing = UMN - stroke, tumours
With which antiepleptic medication might you see seizure recurrence 3-4 weeks after starting, why + how do you combat this?
Carbamazepine - metabolised by autoinduction - The half-life of carbamazepine decreases considerably as auto-induction takes place.
dose should be increased every 2 weeks
What is anti-NMDA receptor encephalitis
Paraneoplastic syndrome associated with ovarian teratoma.
Presents with psychiatric features - agitation, hallucinations, delusions, seizures
Which anti-epileptic causes visual defects?
Vigabatrin (V +V)
Common trigger for cluster headache
Alcohol
Which renal condition can develop secondary to tuberous sclerosis? risk?
renal angiomyolipomata - prone to haemorrhage
Bilateral acoustic neuromas is assocociated with what? Gene mutation on what gene?
NF2 - gene mutation on chromosome 22
(bilateral - NF2 and 22 - all 2s)
Progressive supranuclear palsy specific feature
Vertical gaze dysfunction