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Neuro Genetics
Neurology
| Question | Answer |
|---|---|
| Allelic vs non-allelic heterogeneity | allelic: 1 gene causes >1 condition; non-allelic: clinical syndrome is d/t >1 gene |
| Autosomal dominant | 1:1 M:F; multi generations; M-to-M transmission seen; variable expression (important); late-onset neurodegenerative dz’s |
| Autosomal dominant disorders | Huntington, NF1/NF2, spinocerebellar ataxias, familial Alz, CMT |
| NF1: other manifestations: | hydrocephalus, seizures, learning disabilities, short, lack of GH, precocious puberty, Renal Artery stenosis |
| Auto recessive | >1 affected each generation; M:F 1:1; consanguinity; carriers usu asx; inborn errors of metabolism |
| Auto recessive disorders | PKU, Tay-Sachs, MSUD, Friedreich’s, Wilson, homocystinuria, sickle cell |
| Wilson Dz | hepatolenticular degen (impaired ceruloplasmin synth); presents in teen years (hepatitis) |
| Wilson S/S | tremor, dysarthria, slow, hoarse, chorea, psych |
| Wilson: dx | high ceruloplasmin & copper; low copper on liver bx; Kayser Fleischer rings |
| Wilson: tx | reduce copper intake; chelate; transplant / |
| X-linked recessive | F-toM trans; M=affected, F=carrier; |
| X-linked rec dz | Duchenne/Becker MD; Kennedy; adrenoleukodystrophy; Menkes (kinky hair); Lesch-Nyhan; Fragile X |
| Duchenne/Becker Dx/Tx | genetic testing, elevated CK, EMG; Tx: supportive, corticosteroids, PT, ortho, cardiopulmonology |
| X-linked dom | F-to-F transmission (lethal to males); Rett; Aicardi; Lissencephaly 2 |
| Rett dz | 6-18 mos; live to 40s; autism; cardiac & scoliosis |
| Mitochondrial dz | multi generations; trans by F only; 1:1 M:F affected; MERRF, MELAS, LHAN, Kearns-Sayre |
| MELAS | d/t pt mutation of transfer DNA from leucine; <40 yo; lactic acidosis; HA, stroke, seizure, short; progressive dementia; Dx high serum pyruvate & lactate, stroke lesions; no tx |
| TNR: mode of inheritance | can be multiple modes of inheritance |
| TNR dz | Huntington, Fragile X, myotonic dys; Kennedy; spinocerebellar ataxia; Friedreich |
| Alz dx/tx: | dx of exclusion (neuropsych eval); MRI/CT: hippocampal atrophy; amyloid on PET (Pittsburgh B); LP: inc tau, dec amyloid-beta 42; tx: cholinesterase inhib |
| Alz: APOE gene | E2: protective vs Alz; E4: inc risk of dev Alz |
| Alz dz: main reason for genetic counseling is: | info only |
| Parkinson dz | usu unilateral onset; resting tremor, slow, cogwheel rigidity, festinating gait, masked facies, postural instability |
| Parkinson: TRAP = | Tremor, Rigidity, Akinesia, Postural instability |
| Pathological hallmark of Parkinson: | Lewy body (alpha-synuclein is main component) |
| Most common genetic form of Parkinson: | PARK8 |
| von Hippel-Lindau dz: features | retinal angioma; cerebellar hemangioblastoma; presents in adolescence |
| Sturge-Webber: features | Port-wine stain; MR; seizure; hemiparesis; impaired visual function/glaucoma |
| Tourette disorder heredity | Auto dominant |
| “Ash leaf” hypopigmentation of trunk & Ext, shagreen patch, sebaceous adenomas, seizures, mental retardation; assoc w/ PCK, renal hemartomas | Tuberous sclerosis (auto dominant) |
| Charcot-Marie-Tooth: genetics | usually auto dominant |
| Huntington dz genetics | Huntingtin gene is on short arm of chromosome 4; >35 CAG trinucleotide repeats = penetrance/affected/dz |
| Autosomal dominant disorders | Huntington, NF1/NF2, spinocerebellar ataxias, familial Alz, CMT |
| NF1: manifestations: | hydrocephalus, seizures, learning disabilities, short, lack of GH, precocious puberty, renal artery stenosis |
| Auto recessive disorders | PKU, Tay-Sachs, MSUD, Friedreich’s, Wilson, homocystinuria, sickle cell |
| X-linked recessive pattern | F-toM trans; M=affected, F=carrier |
| X-linked rec dz | Duchenne/Becker MD; Kennedy; adrenoleukodystrophy; Menkes (kinky hair); Lesch-Nyhan; Fragile X |
| X-linked dom dz | F-to-F transmission (lethal to males); Rett; Aicardi; Lissencephaly 2 |
| Rett dz | Onset 6-18 mos; live to 40s; autism; cardiac & scoliosis |
| Mitochondrial dz | multi generations; trans by F only; 1:1 M:F affected; MERRF, MELAS, LHAN, Kearns-Sayre |
| MELAS manifestations | 2/2 pt mutation of transfer DNA from leucine; <40 yo; lactic acidosis; HA, stroke, seizure, short; progressive dementia; no tx |
| TNR: mode of inheritance | can be multiple modes of inheritance |
| TNR dz | Huntington, Fragile X, myotonic dys; Kennedy; spinocerebellar ataxia; Friedreich |
| Alzheimer: APOE gene | E2: protective vs Alz; E4: inc risk of dev Alz |
Created by:
Abarnard
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