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Neuro Genetics

Neurology

QuestionAnswer
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