Duke PA Neurogenetics
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| different version of the gene | allele
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| two copies of the same allele | homozygous
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| different copies of the allele | heterozygous
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| detectable clinical, physiological, or biochemical manifestation in an individual | phenotype
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| genetic constitution of an individual. Usually refers to a particular gene or a set of genes that have been altered (mutated) | genotype
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| occur as a direct consequence of a single gene being defective-occurs in rare circumstances | monogenic inheritance
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| variation in expression of the phenotype "how purple am I" | expressivity
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| percent of individuals with mutation who will show clinical manifestations. "am I purple" | penetrance
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| a normal biological phenomenon in females where one X chromosome is inactivated (genes silenced) in every cell | lyonization
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| Neurofibromatosis I is an __ disease | autosomal dominant
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| Neurofibromatosis criteria: the patient must have 2 of the following 7 | 1. cafe au lait macules (6 or more) 2. 2 or more neurofibromas or 1 plexiform neurofibroma 3.axillary or inguinal freckling 4.optic glioma 5. lisch nodules (iris hamartomas) 6. dysplasia or thinning of long bone cortex 7. 1st degree relative w/NF1
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| most common CNS neoplasm with Neurofibromatosis I is __ | optic glioma
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| Most common and debilitating manifestation of Neurofibromatosis I | renal artery stenosis
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| Neurofibromatosis I testing is __% accurate | 95
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| Neurofibromatosis II testing is __% accurate | 65
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| Diagnostic criteria for Neurofibromatosis II | bilateral vestibular schwannomas, or 1st degree relative w/ disease plus a unilateral vestibular schwannoma before 30 years old, or any two of the following (neurofibroma, meningioma, glioma, schwannoma, or juvenile posterior subscapular opacity)
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| >1 family member in a single generation, males and females equally affected, history of consaguinity, carriers are usually asymptomatic | autosomal recessive disorders
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| in neurology, usually seen in childhood inborn errors of metabolism | autosomal recessive disorders
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| most of the inborn errors of metabolism (Phenylketonuria, Tay-Sachs disease, Maple syrup urine disease) | autosomal recessive disorders
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| Friedrich's ataxia, Wilson's disease, homocystinuria, sickle cell disease | autosomal recessive disorders
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| hepatolenticular degeneration leads to impairment of ceruloplasmin synthesis. Usually presents in teenage years (1st sign is hepatitis, Neuro symptoms include tremor, slowness, dysarthria, dysphagias, hoarseness, chorea/dystonia, psychiatric disturbances | Wilson's disease
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| Kayser-Fleischer rings may be seen in this autosomal recessive disorder | Wilson's disease
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| goleden brown rings in Descemet's layer of cornea | Kayser-Fleischer rings
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| Multiple generation affected but: Female to male transmission, males are clinically affected with severe disease, females are carriers and generally do not have the disease or have a mild late onset | X-linked recessive disorders
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| Duchenne/Becker's muscular dystrophy, adrenoleukodystrophy, Kennedy's disease, Menkes disease, Lesch-Nyhan disease, fragile X syndrome | X-linked recessive disorders
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| X-linked recessive disease that presents with progressive muscular degeneration leading to loss of ambulation and death. Mutations in the dystrophin gene | Duchenne’s/Becker’s Muscular Dystrophy
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| X-linked recessive disease that presents with weakness in lower extremities, Gower's manuever, pseudohypertrophy of calves | Duchenne’s/Becker’s Muscular Dystrophy
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| How is it possible that in rare circumstances females can have Duchenne's/Becker's Muscular Dystrophy | lyonization (X inactivation), or females with Turner's syndrome (only one X chromosome)
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| Multiple generation affected but, female to female transmission of the disease, (males in neurology leads to lethal mutation) | x-linked dominant disorders
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| Rett's syndrome, Aicardi syndrome, Lissencephaly II | x-linked dominant disorders
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| Caused by a mutation in the MeCP2 gene. Leads to a progressive neurodevelopment disorder in young girls. | Rett's Syndrome
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| Presentation: Normal until 6-18 months of age then show decreased head growth, autistic behavior, writhing/useless hands, ataxia, loss of speech and other milestones. Seizures develop later on. Many times will look like autism. Can live into 40's. | Rett's Syndrome
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| Multiple generations but transmission only by females (cytoplasmic inheritance, only ovum cytoplasm is the zygote). Equal number of males and females affected. | Mitochondrial inheritance disorders
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| almost all mitochondrial inheritance disorders have | lactic acidosis, some kind of encephalopathy, and red ragged muscle fibers on biopsy
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| Mitochondrial encephalopathy, lactic acidosis, and strok (MELAS), Leber's hereditary optic neuropathy (LHON), Kerns-Sayre syndrome | Mitochondrial inheritance disorders
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| Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Due to a point mutation in transfer RNA from leucine. Presentation: recurrent headaches, stroke-like episodes, seizures, short stature. Develop progressive dementia. | MELAS
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| disease severity increases in subsequent generations with expansion in trinucleotide repeats, biological phenomenon peculiar to neurological diseases | Trinucleotide Repeat Expansion/Anticipation
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| Rare autosomal dominant neurodegenerative disease involving multiple abnormal CAG repeats on chromosome 4. Onset: usually ages 20-40 y/o. Age of onset is affected by anticipation. Progresses to death in 10-15 years. | Huntington's Disease
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| Presentation- Subcortical dementia. chorea, dystonia, motor impersistence, incoordination, gait instability. Depression, anxiety, impulsivity, apathy, obsessive-compulsive disorder. High rate of suicide | Huntington's Disease
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| Loss of caudate and loss of medium spiny striatal neurons. CT/MRI will show cerebral atrophy and loss of caudate. No cure | Huntington's Disease
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| When a minor (child) patient has a family history of __ do not do genetic testing until the patient is a consenting well informed adult | Huntington's Disease
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| both __ are associated with a genetice suceptibility. Under most circumstances, both of these illnesses are more likely to be sporadic and not associated with familial inheritance | Alzheimer's dementia, and Parkinson's disease
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| < __% of Alzheimer's dementia is purely familial | 10
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| Presentation: generally diagnosed in patients > 65 years. Symptoms include memory impairment, language deficits, acalculia, depression, agitation, apraxia (inability to perform skilled movements) | Alzheimer's disease
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| pathology: plaques with amyloid deposition, neurofibrillary tangles | Alzheimer's disease
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| best preventative for Alzheimer's | maintain mental and physical activity
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| all forms of familial Alzheimer's are associated with __ | earlier onset of presentation
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| Syndrome characterized by late-onset, largely nonheritable movement disorder. Most cases are defined as idiopathic (75%). Due to dopamine depletion in substantia nigra | Parkinson's Disease
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| Pathology: loss of pigmented neurons in the substantia nigra | Parkinson's Disease
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| Mnemonic TRAP (Tremor, Rigidity, Akinesia, Postural instability) is for __ | Parkinson's Disease
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| Monogenic forms likely represent only __% of Parkinson's Disease | 5
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