Ataxia telangiectasia (AT)

Genetics and pathology

• This is caused by mutations in the ATM gene on chromosome 11
• The gene encodes a serine/threonine kinase
• The transmission is autosomal recessive
• The mutation impairs DNA repair
• It also causes low IgA and IgG levels and raised serum α fetoprotein (AFP)
• The onset age is usually < 3 years

References

1. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
2. Sharma A, Buxi G, Yadav R, Kohli A. Ataxia telangiectasia: a report of two cousins and review of the literature. Indian J Med Pediatr Oncol 2011; 32:217-222.
3. Shaikh AG, Marti S, Tarnutzer AA, et al. Gaze fixation deficits and their implication in ataxia-telangiectasia. JNNP 2009; 80:858-864.
4. Lnu P, Sehgal V, Kapila S, Gulati N, Bhalla Sehgal L. Ataxia telangiectasia presenting as cervical dystonia. Cureus 2022; 14:e30723. 
5. Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 2013; 81:1148–1151.
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Related checklists

• Ataxia-telangiectasia like disorder (ATLD)
• COQ8A ataxia
• Cayman ataxia
• Cockayne syndrome
• Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
• Abetalipoproteinaemia
• Gordon Holmes syndrome (GHS)
• Autosomal recessive spinocerebellar ataxias (SCAR)
• Autosomal recessive cerebellar ataxia with STUB1 mutations
• Spinocerebellar ataxia with axonal neuropathy (SCAN1)
• Infantile-onset spinocerebellar ataxia (IOSCA)