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DU PA Neurogenetics

Duke PA Neurogenetics

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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