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Neurological Disease

QuestionAnswer
Chromosome number and locus of Parkinson's disease? 4q21
Chromosome number and locus of Huntington's disease? 4p16
Chromosome number of Alzheimer's disease? Type 1, 2, 3, 4 respectively? 21, 19, 14, 1
Chromosome number and locus of Charcot-Marie-Tooth disease? 17p12
Chromosome number and locus of Rett syndrome? Xq28
Chromosome number and locus of Amyotrophic Lateral Sclerosis? 21q22
Chromosome number and locus of Spinocerebellar Atrophy? 6p23
Affected gene and protein of Parkinson's disease? SNCA gene, alpha-synuclein
Affected gene and protein of Huntington's disease? IT-15 gene, Huntington protein
Affected gene and protein of Charcot-Marie-Tooth? PMP22: peripheral myelin protein22 MPZ: Myelin protein zero Cx32: connexin32
Affected gene and protein of Alzheimer's disease? APP, ApoE, PSEN1, PSEN2, beta-amyloid protein
Which brain part is affected by Parkinson's disease? substantia nigra
Which brain part is affected by Huntington's disease? Caudate nucllei, puttaman, globun pallidus
Caudate nuclei, puttaman, globus pallidus together are called... basal ganglia
Which brain part is affected by Alzheimer's disease? hippocampus, cerebral cortex
What hippocampus controls? memory and emotions
What cerebral cortex controls? language and reasoning
For Alzheimer's disease, gene mutation causes accumulation of __________ outside of neurons. amyloid plagues
For Alzheimer's disease, gene mutation causes accumulation of _______________ inside neurons. neurofibrillary tangles
What is thought the neurofibrillary made of? tau protein
What disease is this: tremor, muscle rigidity, slowed movement, affected substantia nigra, caused by decrease of dopamine and production of lewy bodies. Parkinson's disease
What disease is this: intellectual decline, psychiatric changes, dementia, affected caudate nuclei, caused by altered protein and CAG repeat, secretion of GABA? Huntingon's disease
Which disease is this: most common form of dementia and 4th leading cause of death in adults, irreversible progressive brain disorder, affected hippocampus and cerebral cortex, caused by accumulated amyloid plaques or neurofibrillary in brain Alzheimer's disease
n of the muscle in the foot, leg, hand, drop foot walk, affected Schwann cells, caused by deletion/duplication of 17p12 causing demylination Charcot-Marie-Tooth disease
Which disease is this: epilepsy, recurrent seizures, caused by mutation in the SPM2A gene, exceccive laforin protein destroys brain cell. LaFora disease
Which disease is this: most common mental retardation in females, loss of use of hands and speech, brain size reduction, X-linked, lethal in males, mutated MeCP2 and BDNF gene disturbs brain development Rett syndrome
Which disease is this: no muscle nourishment in the spinal cord area, progressive degeneration of motor neuron cells, mutated SOD1 cause cell death by free radicals Amyotrophic Lateral Sclerosis (ALS)
Which disease is this: degeneration of the spinal cord and the cerebellum affects body movement, jerky and uncoordinated motions, caused by CAG repeat, lack of CAT sequences causing uninterrupted CAG over-producing glutamine which hurt cell Spinocerebellar atrophy
Which disease is this: lipid storage disease, metabolic storage disease, form "foam cells", abdominal distention, severe neurodegeneration, feeding problems, blindness, enlarged liver and spleen, cherry red spot in the eye Niemann Pick Disease
Which diseases are affected by CAG repeats? Huntington's disease, Spinocerebellar atrophy
Which disease is affected by SNCA gene? Parkinson's disease
Which disease is affected by formation of Lewy bodies? Parkinson's disease
Which disease is affected by APP, APoE, PSEN genes? Alzheimer's disease
Which disease is affected by CMT, Cx32 gene? Carcot-Marie-Tooth disease
Which disease is affected by myelin protein 22? Charcot-Marie-Tooth disease
Which cells are affected in Charcot-Marie-Tooth disese? Schwann cells
Which disease is affected by EMP2A gene? LaFora disease
Which disease is affected by MeCP2 gene? Rett Syndrome
Which disease is affected by mutated SOD1 gene? Amyotrophic Lateral Scleorosis (ALS)
Which part of body is affected by Amyotrophic Lateral Sclerosis (ALS)? Motor neuron
Which disease is affected by abnormal SCA1 gene which over-produce glutamine? Spinocerebellar atrophy
Created by: hiroko2013
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