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DU PA Neurogenetics
Duke PA Neurogenetics
| Question | Answer |
|---|---|
| different version of the gene | allele |
| two copies of the same allele | homozygous |
| different copies of the allele | heterozygous |
| detectable clinical, physiological, or biochemical manifestation in an individual | phenotype |
| genetic constitution of an individual. Usually refers to a particular gene or a set of genes that have been altered (mutated) | genotype |
| occur as a direct consequence of a single gene being defective-occurs in rare circumstances | monogenic inheritance |
| variation in expression of the phenotype "how purple am I" | expressivity |
| percent of individuals with mutation who will show clinical manifestations. "am I purple" | penetrance |
| a normal biological phenomenon in females where one X chromosome is inactivated (genes silenced) in every cell | lyonization |
| Neurofibromatosis I is an __ disease | autosomal dominant |
| 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 |
| most common CNS neoplasm with Neurofibromatosis I is __ | optic glioma |
| Most common and debilitating manifestation of Neurofibromatosis I | renal artery stenosis |
| Neurofibromatosis I testing is __% accurate | 95 |
| Neurofibromatosis II testing is __% accurate | 65 |
| 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) |
| >1 family member in a single generation, males and females equally affected, history of consaguinity, carriers are usually asymptomatic | autosomal recessive disorders |
| in neurology, usually seen in childhood inborn errors of metabolism | autosomal recessive disorders |
| most of the inborn errors of metabolism (Phenylketonuria, Tay-Sachs disease, Maple syrup urine disease) | autosomal recessive disorders |
| Friedrich's ataxia, Wilson's disease, homocystinuria, sickle cell disease | autosomal recessive disorders |
| 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 |
| Kayser-Fleischer rings may be seen in this autosomal recessive disorder | Wilson's disease |
| goleden brown rings in Descemet's layer of cornea | Kayser-Fleischer rings |
| 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 |
| Duchenne/Becker's muscular dystrophy, adrenoleukodystrophy, Kennedy's disease, Menkes disease, Lesch-Nyhan disease, fragile X syndrome | X-linked recessive disorders |
| 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 |
| X-linked recessive disease that presents with weakness in lower extremities, Gower's manuever, pseudohypertrophy of calves | Duchenne’s/Becker’s Muscular Dystrophy |
| 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) |
| Multiple generation affected but, female to female transmission of the disease, (males in neurology leads to lethal mutation) | x-linked dominant disorders |
| Rett's syndrome, Aicardi syndrome, Lissencephaly II | x-linked dominant disorders |
| Caused by a mutation in the MeCP2 gene. Leads to a progressive neurodevelopment disorder in young girls. | Rett's Syndrome |
| 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 |
| 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 |
| almost all mitochondrial inheritance disorders have | lactic acidosis, some kind of encephalopathy, and red ragged muscle fibers on biopsy |
| Mitochondrial encephalopathy, lactic acidosis, and strok (MELAS), Leber's hereditary optic neuropathy (LHON), Kerns-Sayre syndrome | Mitochondrial inheritance disorders |
| 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 |
| disease severity increases in subsequent generations with expansion in trinucleotide repeats, biological phenomenon peculiar to neurological diseases | Trinucleotide Repeat Expansion/Anticipation |
| 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 |
| Presentation- Subcortical dementia. chorea, dystonia, motor impersistence, incoordination, gait instability. Depression, anxiety, impulsivity, apathy, obsessive-compulsive disorder. High rate of suicide | Huntington's Disease |
| 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 |
| 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 |
| 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 |
| < __% of Alzheimer's dementia is purely familial | 10 |
| 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 |
| pathology: plaques with amyloid deposition, neurofibrillary tangles | Alzheimer's disease |
| best preventative for Alzheimer's | maintain mental and physical activity |
| all forms of familial Alzheimer's are associated with __ | earlier onset of presentation |
| 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 |
| Pathology: loss of pigmented neurons in the substantia nigra | Parkinson's Disease |
| Mnemonic TRAP (Tremor, Rigidity, Akinesia, Postural instability) is for __ | Parkinson's Disease |
| Monogenic forms likely represent only __% of Parkinson's Disease | 5 |
Created by:
bwyche
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