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Neurogenetics
Neurology CM
| Question | Answer |
|---|---|
| Different version of a gene | Allele |
| __________ occur as a direct consequence of a single gene being defective | monogenic inheritance |
| Variation in expression of phenotype | Expressivity; how purple am I? |
| Percent of individuals with mutation who will show clinical manifestations? | Am I purple? If I get the purple gene, how likely am I to be purple? |
| Tuberous sclerosis is an example of | genetic heterogeneity. A clinical syndrome caused by >1 gene. Condition can be caused by a mutation in harmartin or tuberin genes |
| Adding a methyl group (silencing of a gene) is known as | lyonization |
| What process enables females to have X-lined recessive diseases? | Lyonization |
| Huntington's, Alzheimers, Neurocutaneous Disorders and Myotonic Dystrophy are what type of disorders? | Autosomal Dominant |
| Every generation has the disease in ________ disorders | Autosomal Dominant Disorders |
| Neurfibromin tumor suppressor genes are found in what disease? | Neurofibromatosis I (chromosome 17) |
| NIH Criteria for NF1: must have 2 of 7 factors | 6 or more Cafe au lait macules, two or more neurofibromas or one plexiform neurofibroma, axillary or inguinal freckling, optic glioma, lisch nodules, Dysplasia or thinning of long bone cortex, 1st degree relative with NF1 |
| Autosomal dominant, Chromosome 22, schwannomin/merlin proteins | Neurofibromatosis 2 |
| What is the role of Genetic testing for Neurofibromatosis 1 & 2 | Both tests are commercially available, but most often the diagnosis is made clinically |
| What is the ratio of M:F in autosomal recessive disorders? | M:F = 1:1 |
| What increases the risk of autosomal recessive disorders? | Hx of consaguinity, closely inbred population |
| Friedrich's ataxia, Wilson's dz, Homocystinuria, Tay-Sachs dz, Phenylketonuria, Maple syrup urine disease and sickle cell dz are what kind of disorders? | Autosomal Recessive Disorders |
| Psychotic 17 yo with hepatitis may have | Wilson's disease. (Copper deposition in liver) |
| Kayser-Fleischer rings are found in which disorder | Wilson's disease |
| Duchenne/Beckers MD, Adrenoleukodystrophy, Kennedy's, Menkes Dz, Lesch-Nyhand, and Fragile X are all what type of Disorders | X-linked Recessive Disorders |
| Where is the mutation in Duchenne's/Becker's MD? | Mutation is in the dystrophin gene |
| What will you see an elevation in with Duchenne's/Beckers? | Creatinine kinase due to active muscle breakdown. |
| It is common for Duchenne's and Becker's patients to die of | pneumonia, respiratory problems |
| What would cause a female to get Duchenne's | Lyonization and if she has Turner's Syndrome (X0) |
| Pseudohypertrophy of the calves is seen in | Duchenne's/Becker's MD |
| X-lined Dominant Disorders are seen in F or M? | Females. It is lethal to males |
| Rett's Syndrome, Aicardi's Syndrome and Lissencephaly 2 are what kind of disorders? | X-linked Dominant Disorders |
| _____ is caused by a mutation in the MeCP2 gene | Rett's syndrome. Leads to a progressive neurodevelopmental disorder. Normal until 6-18 months of age, then show decreased head growth, autistic behavior, writhing of hands, ataxia, loss of speech. Seizures later on. |
| Which disorder affects multiple generations but transmission is only by females? (M:F ratio is equal) | Mitochondrial Inheritance Disorders |
| Lactic Acidosis, Encephalopathy, and Red ragged fibers on muscle biopsy are found in almost all of ______disorders | Mitochondiral inheritance disorders |
| Fragile X, Huntington's, Myotonic Dystrophy, kennedy's, Spinocerebellar ataxias,and Freidrich's ataxia are what kind of disorder? | Trinucleotide Repeat (TNR) Expansion/Anticipation |
| If a father has Huntington's, when will his son be affected? | Early than the father's diagnosis b/c the Trinucleotide Repeat expands |
| Abnormal CAG repeats on chromosome 4 | Huntington's Dz |
| What test will show cerebral atrophy and loss of caudate in Huntington's dz? | CT/MRI |
| When is genetic testing acceptable in Huntington's? | When a patient is old enough to make the decision for themselves. |
| _____ of Alzheimers dementia is purely familial | 10%, more likely sporadic |
| Risk factors for Alzheimer's Dz | Age, family hx, down's syndrome, apolipoprotein E genotype |
| Suggested heralding symptom of Alzheimer's | Depression |
| What do Alzheimer's pts die of? | Death occurs within 5-10 years, usually secondary to aspiration pneumonia or infection |
| pathology of Alzheimer's | decreased volume in brain parenchyma, dippocampal atrophy, neurofibrillary tangles, neuritic plaques with amyloid deposition, granulovacular degeneration, Hirano bodies |
| Alzheimer's Diagnosis | Diagnosis of exclusion. Patients should have neuropsychiatric evaluations. MRI, CT, PET, LP |
| All cases of Alzheimer's are _______. | autosomal dominant and involve amyoid precursor protein. Genes involved amyloid precursor protein (on chromosome 21), Presenillin 1 and Presenillin 2 |
| Which APOE gene polymorphism is associated with protection against Alzheimers? | E2 |
| Which APOE gene polymorphism is associated with increased risk of developing Alzheimer's Disease? | E4 |
| This disease is due to dopamine depletion in the substantia nigra | Parkinson's Dz. Loss of pigmented neurons in the substantia nigra. Syndrome characterized by late-onset, largely nonheritable movement disorder. |
| Risk factors for Parkinsons | age, exposure to MPTP, manganese exposure, flu epidemic |
| Caffeine and nicotine may be protective in | parkinsons |
| TRAP Pneumonic | Tremor, Rigidity, Akinesia, Postural Instability |
| Parkinson Presentation | generally >65, unilateral onset (80% of pts), resting tremor, stooped, shuffling steps, masked facies |
| Can be either autosomal dominant and autosomal recessive | Parkinson's Dz |
| Name the most common genetic form of Parkinsons | Park 8 is the most common genetic form, autosomal dominant |
| The pathological hallmark of all forms of Parkinsons | alpha-synuclein is the main component of Lewy body |
| Which populations is Parkinsons associated with? | Arabic descent and Ashkenazi Jewish descent |
| Which disease has accumulation of tau in neurons with marked atrophy of frontal and temporal regions | Frontotemporal Dementia |
Created by:
ltm12