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