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Question
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Which of the following differentiates ATLD(Ataxia telangiectasia like disorders) from Ataxia telangiectasia?
Explanation
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Ataxia telangiectasia-like disorder (ATLD)- Disorder with clinical and biochemical similarities<br>ATLD is caused by mutation in the meiotic recombination 11 gene- MRE11<br>ATLD is very similar to ataxia telangiectasia but has later onset with slower progression; patients lack telangiectasias and do not have raised concentrations of serum fetoprotein
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Reference
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Fogel et al; Review article:Clinical features and molecular genetics of autosomal recessive cerebellar ataxias; Lancet Neurol 2007; 6: 24557
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Option 1
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Is Correct (Option 1):
Early onset
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Option 2
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Is Correct (Option 2):
Rapid progression
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Option 3
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Is Correct (Option 3):
No Telangiectasia
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Option 4
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Is Correct (Option 4):
Raised AFP
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