Quiz Form

Question Date: 30/01/2024

Question: Which of the following differentiates ATLD(Ataxia telangiectasia like disorders) from Ataxia telangiectasia?

Options:

• Early onset
• Rapid progression
• No Telangiectasia
• Raised AFP

Correct Answer: No Telangiectasia

Explaination: 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

Reference: Fogel et al; Review article:Clinical features and molecular genetics of autosomal recessive cerebellar ataxias; Lancet Neurol 2007; 6: 24557