robin082006
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A 12-year-old girl is brought to a pediatrician because of a newly developed tendency to stumble and fall. Physical examination demonstrates a broad-based, slow, clumsy gait with a tendency to lurch from side to side. Several years later, the girl develops upper limb involvement manifested by clumsiness of fine movements and a coarse intention tremor. The patient eventually dies in the fourth decade of life, having experienced slowly progressive symptoms, and eventually becoming bedridden and developing kyphoscoliosis and foot deformities. Which of the following findings would be most likely at autopsy?
A.  Atrophy of the caudate
B. .gif) Atrophy of the spinal cord
C. Depigmentation of the substantial nigra
D. Diffuse cortical atrophy
E. Selective frontal and temporal lobe atrophy
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| msyamp
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B
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| msyamp
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fredercks ataxia
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| sturge_weber
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yes u re right, friedrich ataxia, triple repeat expansion disorder
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| robin082006
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correct
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| robin082006
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GAA triplet repeat expansion
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| goljan_fan
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can anybody explain further patho & s/s in fredricks ataxia
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| robin082006
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Friedreich's Ataxia
auto recessive, GAA triplet repeat expansion
involvement: cerebellum (ataxia), spinal cord (posterior and lateral columns), peripheral nerves, and heart (hypertrophic cardiomyopathy)
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| robin082006
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A: in Huntington's disease: choreoathetosis, dementia, and eventual death,autosomal dominant disorder, CAG triplet repeat expansion.
C: in Parkinson's disease: rigidity, bradykinesia, and a slow resting tremor.
D seen in Alzheimer's disease
E seen in Pick's disease
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| Natasa
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And do you all know what is a phenomenon of ANTICIPATION in triple repeat disorders?
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| msyamp
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ya anticipation is that the triple repeat gets longer as generations go and younger generations have greater peetrance, expression and severity of the disease.
cgg -- fragile x
huntingtons - cag
myotonic dystrophy -- ctg
GAA - Fredericks
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| Natasa
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yeah,the longer the no. of repeats worst is the disease.as tandem repeats are tends to accumaulates through the generations,dis.becomes worst,it is called as anticipation like huntington's chorea.
Good msymp.
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