Ataxia telangiectasia is characterised by all of the following except –
The main features I remember are cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and increased cancer risk. Also, it's linked to DNA repair defects, specifically involving the ATM gene. So the question is testing knowledge of these characteristic features.
Now, the options aren't provided, but the user mentioned that the correct answer is one of them. Let's assume the options include features like cerebellar ataxia, telangiectasias, immunodeficiency, and maybe something like "autosomal dominant inheritance" which would be incorrect. The incorrect options might also include things like "normal ATM gene" or "absence of chromosomal instability."
The correct answer would be the one that's not a feature of A-T. For example, if one of the options states that the disorder is X-linked, that would be wrong because A-T is autosomal recessive. Another incorrect option could be a feature like "normal immune function," which is not true since A-T causes immunodeficiency.
The clinical pearl here is that A-T is associated with the ATM gene mutation leading to defective DNA repair, which explains the radiosensitivity and cancer predisposition. Students should remember that A-T presents with progressive ataxia, telangiectasias, and immunodeficiency, and that it's an autosomal recessive disorder. Also, the ATM gene is crucial here, so any option conflicting with this would be incorrect.
**Core Concept**
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder caused by mutations in the **ATM (Ataxia-Telangiectasia Mutated)** gene, which is critical for DNA repair and cellular response to DNA damage. Key clinical features include cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and increased cancer risk due to chromosomal instability.
**Why the Correct Answer is Right**
A-T is characterized by progressive cerebellar ataxia from defective Purkinje cell function, telangiectasias in skin and mucous membranes, and defective IgA and IgG2 immunoglobulin levels. The ATM gene encodes a kinase involved in double-strand DNA break repair; its mutation leads to radiosensitivity and lymphoreticular malignancies. The exception in the question is **"autosomal dominant inheritance"**, which contradicts the known autosomal recessive pattern of A-T.
**Why Each Wrong Option is Incorrect**
**Option A:** "Cerebellar ataxia" is a hallmark due to degeneration of the cerebellum.
**Option B:** "Oculocutaneous telangiectasias" are classic vascular abnormalities in A-T.
**Option C:** "Immunodeficiency" occurs from B-cell dysfunction and reduced IgA/IgG2.
**Option D:** "Chrom