Neurology Misc Flashcards
Friedrichs Ataxia:
Autosomal Recessive inheritance
FXN Gene on Chromosome 9 coding for Frataxin gene which is important for MITOCHONDRIAL function.
Affects:
NERVES - peripheral neuropathy (large myelinated sensory fibres and posterior columns causing loss of vibration and proprioception)
HEART - hypertrophic cardiomyopathy
PANCREAS - Diabetes
Common CYP 3A4 Inducers:
Carbamazpine, Phenytoin, Phenobarbitol
Common CYP 3A4 Inhibitors:
Macrolides (erythromycin), Isoniazid, Calcium Channel Blockers.
Types of 3rd nerve palsy
Surgical/Compressive 3rd nerve palsy - oculomotor and parasympathatic affected
Ischaemic - pupil not affected
Which drug can worsen Juvenille Myoclonic Epilepsy?
Cambemazpeine - ask about history of morning jerks prior to prescribing
Interaction between Sodium Valproate and Lamotrigine?
Sodium valproate will competitively inhibit the glucuronidation of lamotrigine leading to reduced clearance.
Entacapone and Tolcapone
Inhibit the enzyme catecol-o-methyl transferase which prevents the breakdown of dopamine and extends the duration of levodopa .
A/E - Diarrhoea, Hepatotoxicity
Features of PSP
Vertical gaze palsy (impaired verticle saccaades, downward gaze palsy)
MRI: MRI showing midbrain atropy with mickey mouse and hummingbird sign.
Pathology of the parkinson plus syndromes
PSP (TAU)
CBD (TAU)
MSA (Synuclein)
Parkinsons (Synuclein)
Lewy Body (Synuclein)
Multi System Atropy
Alpha Synucleinopathy
AUTONOMIC Failure, parksinsonism, Cerebellar signs
Also other synuclein signs - REM sleep disorder
MSA-A (autonomic phenotype)
MSA-P (parkinsons phenotype)
MSA-C (cerebellar phenotype)
FXTAS
Part of the Fragile X gene spectrum:
- Premutation leads to
Huntingtons Disease pathology
Autosomal dominant, CAG trinucleotide repeat disorder.
Huntington Gene, HTT protein
Genetic anticipation, increasing repeat number, worsening phenotype (more pronounced with PATERNAL allele).
Build up of abnormal HTT protein, toxic to neurons, damage to striatal neurons
