CC buzz phrases Flashcards
Direct pathway: Inhibitor or excitatry to cortex?
Excitatory
(increases thalamic excitation of cortex)
Indirect pathway: inhibitory or excitatory?
INhibitory
(decreases thalamic excitation to cortex)
Hyperkinetic movement disorders: direct or indirect pathway dysfunction?
REDUCED activity of indirect pathway
HypOkinetic movement disorders: direct or indirect pathway dysfunction?
Reduced activity of direct pathway
Most common gene mutation in hereditary Parkinson’s disease
LRRK2 (leucine-rich kinase 2), AD
Genetic mutations that cause early onset PD (nb they’re not the most common cause of gentic PD)
PARK 1 (alpha synuclein, AD)
PARK 2 (parkin, AR)
Tongue-protrusion dystonia, chorea, orofacial dyskinesias, acanthocytes on blood smear
Neuroacanthocytosis
Torsin A mutation
DYT1 dystonia, primary generalized dystonia, AD, chr 9, juvenile onset
Filipino with dystonia and parkinsonism
DYT3, Lubag, X-linked dystonia-parkinsonism
Dystonia in a young girl with diurnal variation and parkinsonism on exam
DYT5, dopa-responsive dystonia, autosoma dominant, GTP cyclohydrolase i (GCH1)
Episodes of ataxia with facial twitching. Gene, dz, tx, triggers:
Episodic ataxia I. KCN1A. Triggers: exercise, startle. Tx: CBZ or other AED
Episodes of ataxia with nystagmus and dysarthria, often with comorbid migraine: dx, gene, triggers, tx
EA II. CACN1A (same as familial hemiplegic migraine). Triggers: EtOH, stress,f atigue. Tx: acetazolamide
Neurotransmitter implicated in familial hyperekplexia
glycine
High arched feet, scoliosis, neuropathy, ataxia, cardiomyopathy. Dx, gene
Friederich’s ataxia. Trinucleotide repeat GAA in frataxin gene Chr 9, AR. nb cardiomyopathy is a major cause of death. see degeneration of posterior columns
Ataxia with high serum alpha fetoprotein
Ataxia-telangiectasia
